Nasal Bridge, Depressed
IAO_0000115: Posterior positioning of the nasal root in relation to the overall facial profile for age.
category: PhenotypicFeature
has exact synonym: Nasal Bridge, Recessed
has exact synonym: Nasal Bridge, Retruded
has exact synonym: Nasal Root, Depressed
has exact synonym: Nasal Root, Recessed
has exact synonym: Protrusion of the Nasal Bridge, Decreased
has related synonym: Nasal Bridge, Flat
has related synonym: Nasal Bridge, Low
has related synonym: Snub Nose
type: Class
comment: The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background.
subclass of: PhenotypicFeature
equivalent class: HP_0005280

Foot, Osseous Syndactyly of
IAO_0000115: Lateral (A/P) fusion of the digits (phalanges and/or metatarsals) by hard tissue (cartilage and/or bone).
category: PhenotypicFeature
has related synonym: Syndactyly (without adjective)
type: Class
comment: Metatarsal syndactyly can be demonstrated by the inability to independently manipulate the two metatarsals (see Polydactyly, mesoaxial for a description of this maneuver) or the continuity of two metatarsals is demonstrated [Biesecker, [2007]]. The description should include the bones that are fused. Osseous syndactyly is distinct from Symphalangism, where the phalanges are fused at the joint longitudinally (P/D axis). The exact nature of the bony anomaly may not be definable without X-ray evidence. Note that the unqualified term syndactyly is no longer allowed as it is unclear whether this refers to bony or cutaneous syndactyly.
subclass of: PhenotypicFeature
equivalent class: HP_0010717

Nuchal Skin, Redundant
IAO_0000115: Excess skin around the neck, often lying in horizontal folds.
category: PhenotypicFeature
type: Class
comment: With age and increased vertical growth of the neck, excess nuchal skin may disappear and the neck may become broad or webbed. If the skin folds are vertical or paravertical, the term Neck webbing should be used.
subclass of: PhenotypicFeature
equivalent class: HP_0000474

Commissural Pit
IAO_0000115: Depression located at an oral commissure.
category: PhenotypicFeature
type: Class
comment: This pit has no relationship to a Lip pit.
subclass of: PhenotypicFeature
equivalent class: HP_0002710

Hand, Preaxial Polydactyly of
IAO_0000115: Duplication of all or part of the first ray.
category: PhenotypicFeature
has exact synonym: Anterior Polydactyly
has related synonym: Anterior Duplication of the Limb/Hand
has related synonym: Radial Polydactyly
type: Class
comment: There is a wide spectrum of this malformation. The mild end of the spectrum is a bifid (not cleft) nail or a distal phalanx of the thumb with a central lacuna or bifid tip. Broadened thumbs without a recognizable line of anterior/posterior clefting should be coded as Thumb, broad. Note that finger numbering may be affected by the finding of preaxial polydactyly. See the introductory comments for guidance on digit numbering. It is optional to modify the term by adding partial to a duplicated thumb that involves less than the entire ray (metacarpal and both phalanges) and complete for a digit that has complete duplication of all three bones.
subclass of: PhenotypicFeature
equivalent class: HP_0100258

Forehead, Narrow
IAO_0000115: Width of the forehead or distance between the frontotemporales is more than two SD below the mean. Apparently narrow inter-temporal region.
category: PhenotypicFeature
has exact synonym: Bitemporal Narrowing
has exact synonym: Intertemporal Narrowing
type: Class
comment: Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow [Farkas, [1981]].
subclass of: PhenotypicFeature
equivalent class: HP_0000341

Nose, Bulbous
IAO_0000115: Increased volume and globular shape of the anteroinferior aspect of the nose.
category: PhenotypicFeature
has related synonym: Nasal Tip, Bulbous
has related synonym: Pear-shaped Nose
has related synonym: Potato Nose
type: Class
comment: This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip.
subclass of: PhenotypicFeature
equivalent class: HP_0000414

Columella, High Insertion
IAO_0000115: Insertion of the posterior columella superior to the nasal base.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0012807

Thumb, Adducted
IAO_0000115: In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
category: PhenotypicFeature
type: Class
comment: The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3.
subclass of: PhenotypicFeature
equivalent class: HP_0001181

Eruption, Advanced
IAO_0000115: Tooth eruption more than 2 SD earlier than the mean eruption age.
category: PhenotypicFeature
type: Class
comment: There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al., [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum.
subclass of: PhenotypicFeature
equivalent class: HP_0006288

Lagophthalmos
IAO_0000115: Inability to totally close the eyelids while awake, asleep, or both.
category: PhenotypicFeature
type: Class
comment: It may be an isolated finding or part of a syndrome [Korula et al., [1995]] and can be associated with Ectropion. Lagophthalmos frequently results in chronic conjunctival and/or corneal irritation.
subclass of: PhenotypicFeature
equivalent class: HP_0030001

Helix, Crus, Horizontal
IAO_0000115: Main axis of the crus of the helix perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly.
category: PhenotypicFeature
type: Class
comment: The term "railroad track sign" has been used to describe prominent horizontal crus of the helix in combination with prominent and parallel inferior crus of the antihelix. It is preferable to simply describe each component separately.
subclass of: PhenotypicFeature
equivalent class: HP_0009897

Pretragal Ectopia
IAO_0000115: Variably shaped, cartilage-containing tissue anterior to the external auditory meatus.
category: PhenotypicFeature
has exact synonym: Polyotia
has exact synonym: Pretragal Duplication
has related synonym: Accessory Tragus
type: Class
comment: These structures are frequently complex and should be distinguished from Preauricular tags. They may be difficult to distinguish from striated muscle hamartomas or Tragal duplications. Pretragal ectopias often appear helix-like (Fig. a), and in such cases may be called Polyotia (Fig. c).
subclass of: PhenotypicFeature
equivalent class: HP_0030024

Stahl Ear
IAO_0000115: Third crus arising at or above the normal bifurcation of the antihelix.
category: PhenotypicFeature
has exact synonym: Antihelix, Third Crus
has exact synonym: Ear, Additional Crus
type: Class
comment: The helix is often poorly formed. Four types have been recognized in the surgical literature [Yamada and Fukuda, [1980]], but are not further delineated here.
subclass of: PhenotypicFeature
equivalent class: HP_0100015

Toe, Broad
IAO_0000115: Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.
category: PhenotypicFeature
type: Class
comment: Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient.
subclass of: PhenotypicFeature
equivalent class: HP_0001837

Forehead Creases, Vertical
IAO_0000115: Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression, or when the face is at rest.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0011221

Nails, Fused
IAO_0000115: A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.
category: PhenotypicFeature
type: Class
comment: The use of the word fused is not meant to imply that pathogenetically these nails were separate and merged. This is distinct from a split or cleaved nail, where the two parts of the nails share the same radius of curvature. The involved digits should be specified. It may be associated with underlying syndactylous digits, but these are coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0011312

Thumb, Proximal Placement of
IAO_0000115: Thumb placement index >0.55. The base of the thumb appears closer to the wrist than is typical.
category: PhenotypicFeature
type: Class
comment: The technique for the thumb placement index is described in detail [Malina et al., [1973]; Hall et al., [2007]]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly.
subclass of: PhenotypicFeature
equivalent class: HP_0009623

Epiblepharon
IAO_0000115: Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.
category: PhenotypicFeature
type: Class
comment: This term is based on Lemke and Stasior [1981]. This should be distinguished from Entropion.
subclass of: PhenotypicFeature
equivalent class: HP_0011225

Finger, Radial Deviation of
IAO_0000115: Angulation of a digit toward the anterior axis (radial side) of the limb.
category: PhenotypicFeature
type: Class
comment: The deviation is at the MCPJ. The affected digits should be specified. This finding is distinct from Clinodactyly.
subclass of: PhenotypicFeature
equivalent class: HP_0009466

Nasolabial Fold, Prominent
IAO_0000115: Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).
category: PhenotypicFeature
has exact synonym: Nasolabial Crease, Prominent
type: Class
comment: Increasing prominence with age is usual. See Allanson et al. [2009b].
subclass of: PhenotypicFeature
equivalent class: HP_0005272

Chin, Broad
IAO_0000115: Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.
category: PhenotypicFeature
type: Class
comment: Micrognathia is a term that represents reduction in size of both length and width of the chin. By contrast, increases in chin size are coded separately as Tall chin and Broad chin.
subclass of: PhenotypicFeature
equivalent class: HP_0011822

Palmar Crease, Bridged
IAO_0000115: A crease that connects the proximal and distal transverse palmar creases.
category: PhenotypicFeature
has exact synonym: Transitional Palmar Crease
type: Class
comment: The crease that connects the two transverse creases should itself be more in the transverse (antero-posterior) than longitudinal (proximo-distal) orientation.
subclass of: PhenotypicFeature
equivalent class: HP_0011310

Face, Narrow
IAO_0000115: Bizygomatic (upper face) and bigonial (lower face) width are more than 2 SD below the mean. An apparent reduction in the width of the upper and lower face.
category: PhenotypicFeature
type: Class
comment: Objective measurement of upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until maximum width is determined. Objective measurement of the lower face is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible [Farkas, [1981]]. Narrow face is distinct from Long face.
subclass of: PhenotypicFeature
equivalent class: HP_0000275

Foot, Preaxial Polydactyly of
IAO_0000115: Duplication of all or part of the first ray.
category: PhenotypicFeature
has exact synonym: Anterior Polydactyly
has related synonym: Anterior Duplication of the Limb
has related synonym: Tibial Polydactyly
type: Class
comment: There is a wide spectrum of this malformation. The mild end of the spectrum is a bifid (not cleft) nail or a distal phalanx of the hallux with a central lacuna or bifid tip. Broadened halluces without a recognizable anterior/posterior cleft should be coded as Broad hallux. Note that toe number may be affected by the finding of preaxial polydactyly. See the introductory comments for guidance on digit numbering. It is optional to modify the term by adding partial to a duplicated hallux that involves less than the entire ray (metatarsal and both phalanges) and complete for a digit that has complete duplication of all three bones.
subclass of: PhenotypicFeature
equivalent class: HP_0100258

Open Bite
IAO_0000115: Visible space between the dental arches in occlusion.
category: PhenotypicFeature
type: Class
comment: An open bite produces an absence of vertical overlap of the two dental arches. It may be associated with malocclusion, but this should be coded separately. Open bite can be accompanied by malocclusion, which is a complex bundled term. The Angle classification of malocclusion (Classes I-III) is widely used in the orthodontics community [Moyers, [1973]] for the characterization of malocclusion.
subclass of: PhenotypicFeature
equivalent class: HP_0010807

Philtrum, Midline Raphe
IAO_0000115: Narrow ridge in the midline of the philtral groove.
category: PhenotypicFeature
type: Class
comment: The ridge may be very subtly elevated.
subclass of: PhenotypicFeature
equivalent class: HP_0011826

Cheekbone Underdevelopment
IAO_0000115: Reduction in size of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin.
category: PhenotypicFeature
has exact synonym: Cheekbone, Flat
has exact synonym: Zygomatic Underdevelopment
has related synonym: Zygomatic Hypoplasia
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0010669

Neck Webbing
IAO_0000115: A paravertically oriented fold of skin on the posterolateral aspect of the neck, usually extending from the mastoid region of the skull to the acromion, and best appreciated in frontal or posterior view.
category: PhenotypicFeature
has exact synonym: Pterygium Colli
type: Class
comment: This feature is often accompanied by a Low posterior hairline, but this should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0000465

Uvula, Narrow
IAO_0000115: Decreased width of the uvula.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0010811

Philtrum, Narrow
IAO_0000115: Distance between the philtral ridges, measured just above the vermilion border, more than 2 SD below the mean. Apparently decreased distance between the ridges of the philtrum.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0011829

Toes, Overlapping
IAO_0000115: Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.
category: PhenotypicFeature
type: Class
comment: This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): for example, T3,4. The ordering of the numbers specifies which toe is dorsal, that is, with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly.
subclass of: PhenotypicFeature
equivalent class: HP_0001845

Helix, Crimped
IAO_0000115: Linear, circumferential indentation in the convexity of the outer surface of the helix.
category: PhenotypicFeature
has exact synonym: Indented Helix
type: Class
comment: The crimp is usually found in the middle third of the descending helix. The helix has the appearance of having been pinched or flattened along its posterior margin. The crimp may distort the free margin of the helix.
subclass of: PhenotypicFeature
equivalent class: HP_0011262

Hammertoe
IAO_0000115: Hyperextension of the MTPJ with hyperflexion of the PIPJ.
category: PhenotypicFeature
has related synonym: Dorsiflexed Toe
type: Class
comment: This term replaces the phrase dorsiflexed toe as that term is an incomplete description of the abnormality [Young et al., [2005]]. Note that this is not a synonym of mallet toe.
subclass of: PhenotypicFeature
equivalent class: HP_0001765

Supraorbital Ridges, Prominent
IAO_0000115: Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.
category: PhenotypicFeature
has exact synonym: Brows, Prominent
has exact synonym: Supraorbital Ridges, Hyperplastic
has related synonym: Brows, Prominent
has related synonym: Supraorbital Ridges, Hyperplastic
type: Class
comment: The ridges need not be thickened or heavy to be prominent.
subclass of: PhenotypicFeature
equivalent class: HP_0000336

Nail, Small
IAO_0000115: A nail that is diminished in length and width.
category: PhenotypicFeature
has exact synonym: Micronychia
has related synonym: Hypoplastic Nails
type: Class
comment: This is a bundled term but is retained because of its common usage. This term may be used when the width and length are reduced, although it may be preferable to code the patient as having both Short nail and Narrow nail. Standards for newborns were identified [Seaborg and Bodurtha, [1989]] but none were identified for older persons. Therefore, for newborns, this could be objective, but this is rarely measured. The affected digits should be specified.
subclass of: PhenotypicFeature
equivalent class: HP_0001792

Fingertip, Broad
IAO_0000115: Increased width of the distal segment of a finger.
category: PhenotypicFeature
has exact synonym: Wide Fingertips
has related synonym: Spatulate Fingertips
type: Class
comment: This term should be reserved for use when the distal digit is significantly broader than the middle part. It should not be used if the digit has Clubbing or Macrodactyly or if the entire finger is broad; instead use Finger, broad.
subclass of: PhenotypicFeature
equivalent class: HP_0011300

Antihelix, Superior Crus, Underdeveloped
IAO_0000115: Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem (Fig. a,b).
category: PhenotypicFeature
has related synonym: Superior Crus of Antihelix, Hypoplastic
has related synonym: Superior Crus of Antihelix, Hypotrophic
type: Class
comment: This finding is highly variable, and the range is illustrated in the figure to the right. There may be an inverse relationship between the relative size of the superior and inferior crura, but these should be assessed separately.
subclass of: PhenotypicFeature
equivalent class: HP_0011246

Nose, Long
IAO_0000115: Distance from nasion to subnasale more than two SD above the mean. Apparently increased length from the nasal root to the nasal base.
category: PhenotypicFeature
has exact synonym: Increased Nasal Height
type: Class
comment: Normal values for length are available [Farkas, [1981]; Zankl et al., [2002]; Hall et al., [2007]]. The length of the nose usually shows an apparent inverse relationship with the length of the philtrum. The nasion may be difficult to determine, in which case only the subjective assessment can be made. Sometimes a nose is well within normal limits in length when measured (objectively) but still appears large (subjectively). The infant's nose usually appears shorter in relation to facial length than does that of the adult [Farkas and Munro, [1987]]. The nose continues to grow throughout life, contributing in adulthood to increases in length of the nasal ridge but not necessarily of the nasal length. There are no normal adult standards to determine this. Long nose is distinct from large nose.
subclass of: PhenotypicFeature
equivalent class: HP_0003189

Toe, Long
IAO_0000115: Digits that appear disproportionately long compared to the foot.
category: PhenotypicFeature
has related synonym: Arachnodactyly
type: Class
comment: This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. The affected digits should be specified. The term arachnodactyly should be discontinued as it may be considered disparaging to liken a patient's digits to that of a spider. If only a subset of the digits of a limb is lengthened, the affected digits should be specified.
subclass of: PhenotypicFeature
equivalent class: HP_0010511

Quelprud Nodule
IAO_0000115: Small cartilaginous prominence on the posterior concha.
category: PhenotypicFeature
type: Class
comment: This is best visualized when the lobe is tilted anteriorly.
subclass of: PhenotypicFeature
equivalent class: HP_0030023

Helix, Crus, Connected to Antihelix
IAO_0000115: Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0011256

Tongue, Bifid
IAO_0000115: Tongue with a median apical indentation or fork.
category: PhenotypicFeature
type: Class
comment: Bifid tongue can be associated with Ankyloglossia, but this should be assessed and coded separately. Small indentations of the tip of the tongue should not be coded as a bifid tongue.
subclass of: PhenotypicFeature
equivalent class: HP_0010297

Tag, Auricular
IAO_0000115: Small protrusion within the pinna.
category: PhenotypicFeature
type: Class
comment: The tag can be located on either side of the pinna.
subclass of: PhenotypicFeature
equivalent class: HP_0030021

Ptosis
IAO_0000115: The upper eyelid lid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris. The upper lid margin obscures at least part of the pupil.
category: PhenotypicFeature
has exact synonym: Blepharoptosis
type: Class
comment: True ptosis usually occurs in the presence of normal palpebral fissure length. Apparent ptosis is seen in Blepharophimosis and other causes of Short palpebral fissures. Pseudoptosis occurs in the presence of severe zygomatic underdevelopment when the resulting dramatic downward eye slant pulls the upper eyelid diagonally across the globe.
subclass of: PhenotypicFeature
equivalent class: HP_0000508

Palpebral Fissure, Downslanted
IAO_0000115: The palpebral fissure inclination is more than 2 SD below the mean for age. The inclination of the palpebral fissure is less than typical for age.
category: PhenotypicFeature
has related synonym: Antimongoloid Slant
type: Class
comment: The slant, or inclination, of the palpebral fissure is defined as the angle formed by two lines: an imaginary line that connects the lateral canthus and the medial canthus of each eye, and an imaginary horizontal line formed by the two medial canthi when the patient holds their head with the facial midline vertical, the head in a neutral vertical position (neither flexed nor extended) and the gaze forward [Farkas, [1994]]. Palpebral fissure inclination norms are specified in Farkas [1994] for Caucasians (pg. 283) and for Chinese and African-American populations (limited data, pgs 342, and 349, respectively). Hall et al. [2007] only specifies norms for Caucasians between 6 and 16 years of age. Note that the mean inclination is slightly upslanting at all ages [Farkas, [1994]; Hall et al., [2007]]. Some features (e.g., Ptosis or Epicanthus) may hinder palpebral fissure inclination assessment. Malar and/or zygomatic hypoplasia and Widely spaced eyes may be associated with a downward slant.
subclass of: PhenotypicFeature
equivalent class: HP_0000494

Eyebrow, Thick
IAO_0000115: Increased density/number and/or increased diameter of eyebrow hairs.
category: PhenotypicFeature
has exact synonym: Bushy Eyebrow
has exact synonym: Hypertrichosis of the Eyebrow
type: Class
comment: Thickness can be regional (medial, middle (central), lateral) or total. These modifiers should be incorporated into the term, when appropriate.
subclass of: PhenotypicFeature
equivalent class: HP_0000574

Macrocephaly
IAO_0000115: Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Apparently increased size of the cranium.
category: PhenotypicFeature
has exact synonym: Head circumference, enlarged
has exact synonym: OFC, enlarged
has related synonym: Macrocranium
type: Class
comment: Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al., [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex.
subclass of: PhenotypicFeature
equivalent class: HP_0000256

Naris, Single
IAO_0000115: One external opening of the nose.
category: PhenotypicFeature
type: Class
comment: The single opening may occur in the midline or it can occur on one side, that is, it can be symmetric or asymmetric. Although the columella is invariably absent, this is implicit and does not need to be separately specified.
subclass of: PhenotypicFeature
equivalent class: HP_0009932

Finger, Short
IAO_0000115: The middle finger is more than 2 SD below the mean for newborns 27-41 weeks EGA or below the 3rd centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each (i.e., it is not the case that the middle finger is the only shortened digit) OR fingers that appear disproportionately short compared to the hand.
category: PhenotypicFeature
has exact synonym: Brachydactyly of the Hand
type: Class
comment: This is an acknowledged bundled term as the definition in most anthropometric sources assumes that the other fingers are all as relatively short as is the middle finger. As the determination of the proportionality of the other four digits is clearly subjective, the term must be regarded as subjective. The Bell classification of brachydactyly (summarized in Temtamy and McKusick [1969]) is a complex assessment of hand patterning - that usage of the word brachydactyly is independent of the use here. When Brachydactyly type x is used, this refers to the Bell classification patterns. When Brachydactyly of the hand is used, it solely refers to reduced length of the specified digits. Short hand should not be used as it is a bundled definition of Short fingers and Short palm. If the distal phalanges are judged to be proportionately shortened, the additional term of Short distal phalanges of the fingers should not be used. If the digit is short overall and the distal phalanx is disproportionately shorter than are the finger overall, then both terms should be used.
subclass of: PhenotypicFeature
equivalent class: HP_0009381

Neck, Broad
IAO_0000115: Increased width of the neck when viewed from the front or back.
category: PhenotypicFeature
has exact synonym: Bull-neck
has exact synonym: Neck, Thick
has exact synonym: Neck, Wide
has related synonym: Bull-neck
type: Class
comment: Neck circumference may provide an objective measure of increase in width. Neck circumference is measured in a horizontal plane at the level of the most prominent portion of the thyroid cartilage, using a tape measure, with the head held erect and eyes facing forward. See Neck webbing for a related finding.
subclass of: PhenotypicFeature
equivalent class: HP_0000475

Clubbing
IAO_0000115: Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
category: PhenotypicFeature
type: Class
comment: This definition does not use specification of nail plate angles for several reasons. First, there is no agreement on which angle should be measured. Second, there are no known data to establish the range of normality. Third, clinicians rarely perform such measurements. Clubbed fingers are often described as resembling the end of drumsticks. The affected digits should be specified as described in the introductory comments. If no subtype identifier is specified, it is assumed that all digits are involved. Although increased soft tissue is the sole or major component of clubbing, some cases may be associated with bone spurs or modest overgrowth of the distal phalanx. As this is not relevant to the clinical (non-radiographic) assessment of clubbing, it is not specified in the definition of this term.
subclass of: PhenotypicFeature
equivalent class: HP_0001217

Philtrum, Broad
IAO_0000115: Distance between the philtral ridges, measured just above the vermilion border, more than 2 SD above the mean. Apparently increased distance between the ridges of the philtrum.
category: PhenotypicFeature
has exact synonym: Philtrum, Wide
type: Class
comment: The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum.
subclass of: PhenotypicFeature
equivalent class: HP_0000289

Face, Small
category: PhenotypicFeature
type: Class
comment: This term is to be deleted as it represents a combination of two terms: Narrow face and Short face. Both are defined elsewhere.
subclass of: PhenotypicFeature
equivalent class: HP_0000274

Pit, Auricular
IAO_0000115: Small indentation in the lower part of the ascending helix, concha, or in the crus helix.
category: PhenotypicFeature
type: Class
comment: The location of the pits is the plane of fusion of the first branchial cleft [Wood-Jones and I-Chuan, [1933]].
subclass of: PhenotypicFeature
equivalent class: HP_0030025

Ear, Long
IAO_0000115: Median longitudinal ear length greater than two SD above the mean. Apparently increased length of the ear.
category: PhenotypicFeature
type: Class
comment: Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. Normal values are available from birth to 16 years of age [Feingold and Bossert, [1974]; Hall et al., [2007]] and birth to 18 years of age [Farkas, [1981]] specific for sex. Adult values for length and width, separated by sex, are published from a sample of US Army personnel (Tech Report NATICK/TR-89/027, pp 89-90) but these are difficult to obtain. Adult Japanese data are also available [Itoh et al., [2001]]. Both adult sets suggest ears increase in length into adulthood and ears in males are larger than those in females. Ears probably more often look large in relation to a small head than actually are large. For this reason we strongly support measurements in assessing ear length. Subjective assessments of ear length should only be used if unavoidable. We encourage recording ear width as well [Farkas, [1981]]. In fact, the commonly used term Macrotia is a bundled term comprising increased length and width (surface area).
subclass of: PhenotypicFeature
equivalent class: HP_0400004

Antitragus, Absent
IAO_0000115: Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix (Figs. 1 and 2a,b [line 0]).
category: PhenotypicFeature
type: Class
comment: The size of the antitragus is highly variable, and the range is illustrated in Figure 2b [modified from Lange, [1966]].
subclass of: PhenotypicFeature
equivalent class: HP_0011249

Upper Eyelid, Fullness of
IAO_0000115: Swelling or distention of the upper eyelid.
category: PhenotypicFeature
type: Class
comment: The swelling can be due to edema, fat or other depositions or inflammation. It is controversial whether there should be a separate term for fullness of the lateral upper eyelid.
subclass of: PhenotypicFeature
equivalent class: HP_0012724

Toes, Splayed
IAO_0000115: Divergence of digits along the A/P axis (in the plane of the sole).
category: PhenotypicFeature
has exact synonym: Spreading of the Digits
type: Class
comment: This may be associated with Macrodactyly but this should be recorded separately. The affected digits should be specified.
subclass of: PhenotypicFeature
equivalent class: HP_0011307

Adactyly
IAO_0000115: The absence of all phalanges of all digits of a limb and the associated soft tissues.
category: PhenotypicFeature
has related synonym: Aphalangy
type: Class
comment: This descriptor does not require absence of the metacarpal or metatarsal bones. A qualifying phrase is added to specify which limb has the attribute of adactyly.
subclass of: PhenotypicFeature
equivalent class: HP_0009776

Helix, Cleft
IAO_0000115: Defect in the continuity of the helix, which may occur at any point along its length.
category: PhenotypicFeature
has exact synonym: Helix, Notched
type: Class
comment: This may take the form of a sharp cleft as in Figure 4a, or a less well-demarcated area as in the outer upper portion of Figure 4b. This should be distinguished from a Question-mark ear. If the defect or notch occurs at the junction of the superior and descending portions of the helix, it should be coded as Darwin notch of the helix.
subclass of: PhenotypicFeature
equivalent class: HP_0009902

Cheeks, Full
IAO_0000115: Increased prominence or roundness of the soft tissues between the zygomata and mandible.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0000293

Philtrum, Tented
IAO_0000115: Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.
category: PhenotypicFeature
type: Class
comment: A tented philtrum may accompany a Smooth philtrum. If present this should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0011825

Ear, Short
IAO_0000115: Median longitudinal ear length greater than 2 SD below the mean. Apparently decreased length of the ear.
category: PhenotypicFeature
type: Class
comment: Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. Normal values are available from birth to 16 years of age [Feingold and Bossert, [1974]; Hall et al., [2007]] and birth to 18 years of age [Farkas, [1981]] specific for sex. Adult values for length and width, separated by sex, are published from a sample of US Army personnel (Tech Report NATICK/TR-89/027, pp 89-90) but these are difficult to obtain. Adult Japanese data are also available [Itoh et al., [2001]]. Both adult sets suggest ears increase in length into adulthood and ears in males are larger than those in females. Subjective assessment of the length of the ear is markedly influenced by the other craniofacial dimensions and easily distorted. For this reason we strongly support measurements in assessing ear length. Subjective assessments of shortness of the ear should only be used if unavoidable. The commonly used term Microtia is a bundled term comprising decreased length and width (surface area).
subclass of: PhenotypicFeature
equivalent class: HP_0400005

Polydactyly, Mesoaxial
IAO_0000115: The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.
category: PhenotypicFeature
has exact synonym: Central Polydactyly
has exact synonym: Intercalary Polydactyly
has related synonym: Insertional Polydactyly
type: Class
comment: To determine this finding in the hand without using a radiograph [see Allanson et al., [2009b] this issue, for a discussion of the use of radiographs], the examiner grasps two adjacent metacarpals, each with a thumb and index finger on the dorsum and palmar aspect of the hand and attempts to independently maneuver the metacarpals. If they cannot be independently manipulated, osseous syndactyly is present [Biesecker, [2007]]. Consensus could not be reached on the utility of the bundled term of Mesoaxial polydactyly, so it is specified in the terminology for the time being. It is arguably superior to describe the two separate terms (e.g., Osseous syndactyly of F3,4 (metacarpal) and Postaxial polydactyly of the hand, type A). The term insertional polydactyly may be less desirable because the word insertion implies mechanism, which is unlikely to be an insertion. The utility of this term should be reviewed over time.
subclass of: PhenotypicFeature
equivalent class: HP_0100260

Nose, Prominent
IAO_0000115: Distance between subnasale and pronasale more than two standard deviations above the mean. Apparently increased anterior protrusion of the nasal tip.
category: PhenotypicFeature
has related synonym: Nose, Large
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0000448

Ear, Protruding
IAO_0000115: Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age OR Outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance.
category: PhenotypicFeature
has exact synonym: Ear, Prominent
has related synonym: Ear, Bat
type: Class
comment: Normal values are available [Farkas, [1981]; Hall et al., [2007]]. In mild cases the superior crus of the antihelix is deficient; in more severe cases the lack of normal folding may be more extensive, but these should be recorded separately. Ears that are protruding may give the appearance of increased size, but this should be assessed separately.
subclass of: PhenotypicFeature
equivalent class: HP_0000411

Lobe, Forward Facing
IAO_0000115: Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear.
category: PhenotypicFeature
type: Class
comment: The lobe should be viewed from the front. This feature is distinct from the situation where the entire ear is forward facing and prominent (as shown in the Figure from Ear, Protruding). The lobe normally lies more or less in the same plane as the remainder of the ear. This feature should be distinguished from Uplifted lobe.
subclass of: PhenotypicFeature
equivalent class: HP_0011263

Face, Short
IAO_0000115: Facial height (length) is more than 2 SD below the mean. An apparent decrease in the height (length) of the face.
category: PhenotypicFeature
type: Class
comment: Objective measurement of face height is made with sliding calipers from the nasion, just above the depth of the nasal root to the gnathion, the inferior border of the mandible, both in the midline [Farkas, [1981]]. Short face is distinct from Wide face.
subclass of: PhenotypicFeature
equivalent class: HP_0011219

Nail, Short
IAO_0000115: Decreased length of nail.
category: PhenotypicFeature
has exact synonym: Brachyonychia
type: Class
comment: Use this designation when the length is reduced but the width is normal. Standards for newborns were identified [Seaborg and Bodurtha, [1989]] but none were identified for older persons. Therefore, for newborns, this could be objective, but this is rarely measured. The affected digits should be specified.
subclass of: PhenotypicFeature
equivalent class: HP_0001799

Chin, Short
IAO_0000115: Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
category: PhenotypicFeature
type: Class
comment: Micrognathia is used when the chin is both short (vertical dimension) and narrow (horizontal dimension).
subclass of: PhenotypicFeature
equivalent class: HP_0000331

Glabella, Prominent
IAO_0000115: Forward protrusion of the glabella.
category: PhenotypicFeature
type: Class
comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root.
subclass of: PhenotypicFeature
equivalent class: HP_0002057

Palate, Submucous Cleft
IAO_0000115: Soft palatal defect with intact overlying mucosa comprising two of the following three findings: (1) notching of the posterior border of the hard palate, (2) bifid uvula, or (3) muscular diastasis leading to a midline translucent zone or furrow in the soft palate.
category: PhenotypicFeature
type: Class
comment: The notch of the posterior hard palate can sometimes be palpated [Aase, [1990]]. Submucous cleft palate is a bundled term but because of its common usage is included here.
subclass of: PhenotypicFeature
equivalent class: HP_0000176

Sandal Gap
IAO_0000115: A widely spaced gap between the first toe (the great toe) and the second toe.
category: PhenotypicFeature
type: Class
comment: The term is a subjective one but should be used when the gap between the toes is as wide as the second toe is broad.
subclass of: PhenotypicFeature
equivalent class: HP_0001852

Toe, Short Distal Phalanx of
IAO_0000115: Short distance from the end of the toe to the most distal interphalangeal crease or DIPJ flexion point.
category: PhenotypicFeature
has exact synonym: Brachytelephalangy
has related synonym: Short Terminal Phalanx of the Hallux
type: Class
comment: This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. Although flexion creases can be useful in the hand (see Short distal phalanx of the finger), this may not be practical in the foot. Alternatively, one may be able to palpate the joint.
subclass of: PhenotypicFeature
equivalent class: HP_0001857

Finger, Short Distal Phalanx of
IAO_0000115: Short distance from the end of the finger to the most distal interphalangeal crease or DIPJ flexion point.
category: PhenotypicFeature
has exact synonym: Brachytelephalangy
has related synonym: Short Terminal Finger
has related synonym: Short Terminal Phalanges
type: Class
comment: This term differs from Partial absence of the finger because in that term, the phalanx must be missing, whereas in this term it may be small, but present. Distal phalangeal lengths can be assessed subjectively by comparing the digit segment to the rest of the digit, to other normal digits in the patient, or to typical patients of the same age or build. Regarding the subjective definition, for individuals who do not have flexion creases, one may determine this by flexing the DIPJ and estimating the length of the terminal segment of the digit. Alternatively, one may be able to palpate the joint.
subclass of: PhenotypicFeature
equivalent class: HP_0009882

Helix, Discontinuous Ascending Root
IAO_0000115: Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid area.
category: PhenotypicFeature
has exact synonym: Anomalous Oigin of Ascending Most of the Helix
has related synonym: Helix, Ascending, Detachment
type: Class
comment: This is an uncommon feature.
subclass of: PhenotypicFeature
equivalent class: HP_0011264

Plagiocephaly
IAO_0000115: Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.
category: PhenotypicFeature
type: Class
comment: Plagiocephaly may affect the posterior skull alone.
subclass of: PhenotypicFeature
equivalent class: HP_0001357

Cryptophthalmos
IAO_0000115: Absent palpebral fissures, with skin passing continuously from the forehead or eyebrow onto the cheek.
category: PhenotypicFeature
type: Class
comment: This term is based on Saal et al. [1992]. This is an acknowledged bundled term, though the separate coding of the components (palpebral fissure absence; presence of eyelashes) was deemed impractical. This is typically associated with a rudimentary or small globe. Frequently, a tuft of hair accompanies the aberrant skin.
subclass of: PhenotypicFeature
equivalent class: HP_0001126

Nasolabial Fold, Prominent
IAO_0000115: Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).
category: PhenotypicFeature
has exact synonym: Nasolabial Crease, Prominent
type: Class
comment: Increasing prominence with age is usual.
subclass of: PhenotypicFeature
equivalent class: HP_0005272

Entropion
IAO_0000115: An inward turning (inversion) of the eyelid margin.
category: PhenotypicFeature
type: Class
comment: The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes [Cheng and Biglan, [2002]]. This should be distinguished from Epiblepharon.
subclass of: PhenotypicFeature
equivalent class: HP_0000621

Vermilion, Upper Lip, U-Shaped
IAO_0000115: Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.
category: PhenotypicFeature
has related synonym: Carp Mouth
has related synonym: Fish Mouth (pejorative terms)
has related synonym: U-shaped Mouth
type: Class
comment: The U-shaped upper vermilion is a more rounded version of the Tented upper lip vermilion. In U-shaped upper vermilion there is loss of the central groove of the Cupid's bow.
subclass of: PhenotypicFeature
equivalent class: HP_0010806

Finger, Slender
IAO_0000115: Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
category: PhenotypicFeature
has exact synonym: Narrow Digits
has exact synonym: Narrow Fingers
has related synonym: Arachnodactyly
has related synonym: Thin Digits
type: Class
comment: The affected digits should be specified as described. The assessment of this finding is difficult when the digits are long. The bundled and pejorative term arachnodactyly is replaced by the separate descriptors Long finger and Slender finger.
subclass of: PhenotypicFeature
equivalent class: HP_0001238

Tragus, Absent
IAO_0000115: Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix.
category: PhenotypicFeature
type: Class
comment: See Lange [1966]. This appears to be unusual in an otherwise normal ear, and is most often seen in microtia with atretic auditory meatus, but those findings should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0011268

Ala Nasi, Thick
IAO_0000115: Increase in bulk of the ala nasi.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0009928

Hairline, Low Anterior
IAO_0000115: Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Apparently decreased distance between the hairline and the glabella.
category: PhenotypicFeature
has exact synonym: Forehead, Low
has exact synonym: Forehead, Short
type: Class
comment: This measurement is carried out with sliding calipers [Farkas, [1981]]. This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair.
subclass of: PhenotypicFeature
equivalent class: HP_0000294

Microdontia
IAO_0000115: Mesiodistal tooth diameter (width) more than 2 SD below mean. apparently decreased maximum width of tooth.
category: PhenotypicFeature
type: Class
comment: Standard reference has means and standard deviations by gender [Moyers et al., [1976]]. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating Diastemata. This should be assessed and coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0000691

Naris, Enlarged
IAO_0000115: Increased aperture of the nostril.
category: PhenotypicFeature
has exact synonym: Naris, Broad
type: Class
comment: The nostrils or nares are typically symmetric, wide openings. They should be assessed with the face at rest to avoid the effect of flared alae nasi that occurs with distress. Note that the nares change with age, from rounded in infancy to elongated at a later age.
subclass of: PhenotypicFeature
equivalent class: HP_0009931

Face, Coarse
IAO_0000115: Absence of fine and sharp appearance of brows, nose, lips, mouth and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
category: PhenotypicFeature
has exact synonym: Features, Coarse
has exact synonym: Lineaments, Coarse
type: Class
comment: Note that this is a bundled term, which conveys an impression or gestalt. It is nonetheless a useful term. Note that the word coarse may be considered pejorative by some.
subclass of: PhenotypicFeature
equivalent class: HP_0000280

Nail, Bifid
IAO_0000115: A digit with two nails, with at least some soft tissue between them.
category: PhenotypicFeature
type: Class
comment: See the Preaxial polydactyly definition for a related point on bifid nails. The affected digits should be specified. If the patient has a partially duplicated digit with two completely separate nails, this term should not be used.
subclass of: PhenotypicFeature
equivalent class: HP_0010793

Uvula, Short
IAO_0000115: Decreased length of the uvula.
category: PhenotypicFeature
has related synonym: Hypoplastic Uvula
type: Class
comment: Objective measurement of the length of the uvula can be determined on a lateral cephalograms. However, in this series we are not relying on radiographs for assessment of findings. In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer.
subclass of: PhenotypicFeature
equivalent class: HP_0010812

Antitragus, Bifid
IAO_0000115: Double rather than single peak of the antitragus.
category: PhenotypicFeature
has exact synonym: Antitragus, Double
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0011250

Philtrum, Smooth
IAO_0000115: Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border (Fig. 1).
category: PhenotypicFeature
has exact synonym: Philtrum, Flat
has related synonym: Philtrum, Indistinct
has related synonym: Philtrum, Simple
type: Class
comment: There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available [Queisser-Luft et al., [2001]]. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome [Astley and Clarren, [1995]] (Fig. 2), has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0000319

Satyr Ear
IAO_0000115: Sharp pointed superior portion of the ear, with variable overfolding of the helix.
category: PhenotypicFeature
has related synonym: Ear, Devil
type: Class
comment: The satyr ear appears to have an abnormally small upper-lateral portion. More extensive underdevelopment continuing down to and including the lobe produces a more extreme anomaly that, unfortunately, has been called Devil ear.
subclass of: PhenotypicFeature
equivalent class: HP_0100015

Foot, Rocker Bottom
IAO_0000115: The presence of both a "prominent heel" and a "convex contour of the sole".
category: PhenotypicFeature
type: Class
comment: The term is a bundled definition but is in common usage. For that reason, it was included by consensus of the group.
subclass of: PhenotypicFeature
equivalent class: HP_0001838

Hyperpigmentation, Intra-Oral
IAO_0000115: Increased pigmentation, either focal or generalized, of the oral mucosa.
category: PhenotypicFeature
type: Class
comment: Pigmentation of alveolar ridges is common in people with dark skin pigmentation. This term encompasses a range of pigmentary findings, from freckles to generalized hyperpigmentation.
subclass of: PhenotypicFeature
equivalent class: HP_0010284

Finger, Absent
IAO_0000115: The absence of all phalanges of a digit of the hand and the associated soft tissues.
category: PhenotypicFeature
has exact synonym: Oligodactyly
has related synonym: Hypodactyly
type: Class
comment: This term does not require absence of the metacarpal. The affected digits should be specified. This definition excludes Partial absence of the finger. Note that it can be challenging to number the missing digit if it is a central digit that is missing. In these cases, it is appropriate to modify the term by adding the phrase "non-thumb." In contrast, it will be obvious that the thumb is present or absent. It may also be difficult to distinguish an absent finger from two digits with an extreme degree of osseous and cutaneous syndactyly. If a patient is missing all digits of a limb, the term Adactyly should be used. The term oligodactyly may be used as a synonym, but only in situations where the missing digit is not specified. For example, to state that a patient has Oligodactyly F5 is awkward because the oligodactyly refers to the digits that are present and the F5 refers to the digit that is absent, which could become confusing with higher order deficiencies. If a digit that cannot be identified is missing, the term can be modified with a cardinal number, for example, "Absent fingers, two."
subclass of: PhenotypicFeature
equivalent class: HP_0009380

Philtrum, Deep
IAO_0000115: Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.
category: PhenotypicFeature
has exact synonym: Philtrum, Prominent
has related synonym: Philtrum, Depressed
type: Class
comment: Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove [Pashayan, [1983]]. We are unaware of a truly deepened philtral groove with normal height of the ridges.
subclass of: PhenotypicFeature
equivalent class: HP_0002002

Plantar Crease, Deep Longitudinal
IAO_0000115: Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.
category: PhenotypicFeature
type: Class
comment: As described for a number of other terms, there are no thresholds or guides for the clinician to assess this finding. Instead, the clinician must rely on experience.
subclass of: PhenotypicFeature
equivalent class: HP_0004681

Helix, Crus, Tragal Bridge
IAO_0000115: The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix.
category: PhenotypicFeature
type: Class
comment: The antihelix can also be anomalous, but this should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0011258

Tragus, Prominent
IAO_0000115: Increase posterolateral protrusion of the tragus (Figs. 2 [line 3] from Tragus, Absent and d from the Figure to the right).
category: PhenotypicFeature
has exact synonym: Enlarged Tragus
has related synonym: Hyperplastic Tragus
has related synonym: Hypertrophic Tragus
type: Class
comment: This finding is highly variable, and the range is illustrated in Figure 2 from Tragus, Absent and the Figure to the right.
subclass of: PhenotypicFeature
equivalent class: HP_0011271

Concha, Extra Fold
IAO_0000115: Folds or ridges within the concha that are distinct from the crus helix.
category: PhenotypicFeature
type: Class
comment: These folds may occur in the absence of a well developed crus helix and can be distinguished by their separate origin and position.
subclass of: PhenotypicFeature
equivalent class: HP_0400002

Scalp Hair, Sparse
IAO_0000115: Decreased number of hairs per unit area.
category: PhenotypicFeature
has exact synonym: Scalp Hair, Thin
has exact synonym: Scalp Hair, Thinning
has related synonym: Scalp Hair, Thin
has related synonym: Scalp Hair, Thinning
type: Class
comment: Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist.
subclass of: PhenotypicFeature
equivalent class: HP_0002209

Fingers, Long
IAO_0000115: The middle finger is more than 2 SD above the mean for newborns 27-41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit) (Fig. 10).
category: PhenotypicFeature
has related synonym: Arachnodactyly Finger, narrow: See Finger, slender
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0100807

Nasal Tip, Overhanging
IAO_0000115: Positioning of the nasal tip inferior to the nasal base.
category: PhenotypicFeature
type: Class
comment: This finding is often associated with a long nasal ridge. It is best appreciated in profile. This may also coexist with a Depressed nasal tip and Low insertion of the columella and should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0011833

Hand, Small
IAO_0000115: A normally proportioned hand (i.e., the various elements of the hand are in proportion to each other) that is overall small for age or overall body size.
category: PhenotypicFeature
has related synonym: Acromicria
type: Class
comment: This is acknowledged to be a bundled term, but it is sufficiently common that it was felt to be too cumbersome to describe the component findings. It is arguably superior to code a patient as having objectively determined Short fingers, Short palms, and Narrow palms instead of this bundled term. Note that there are no objective standards that can be used for this assessment, only for middle finger and palm length and palm width. The term acromicria is discouraged because in some definitions, this term also includes small head or facial features; in others it only includes the fingers and toes.
subclass of: PhenotypicFeature
equivalent class: HP_0200055

Foot, Split
IAO_0000115: Longitudinal deficiency of a digital ray of the foot except rays 1 or 5.
category: PhenotypicFeature
has exact synonym: Cleft Foot
has related synonym: Ectrodactyly
has related synonym: Lobster Claw Deformity
type: Class
comment: The threshold for this deficiency should be that all of the phalanges in the ray are absent and at least part of the metatarsal. If just the phalanges that are missing, this should be coded as Absent toe. The absence of a central ray or rays frequently yields a cleft appearance of the foot. This term is preferred to "ectrodactyly of the foot" as this has been used (more appropriately) for various forms of phalangeal hypoplasia or amputation. "Lobster claw deformity" is neither descriptive nor acceptable. There is wide variation in the affected feet, but the common factor is the absent central ray, justifying Split foot as a clinical designation.
subclass of: PhenotypicFeature
equivalent class: HP_0001839

Trigonocephaly
IAO_0000115: Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.
category: PhenotypicFeature
type: Class
comment: This shape should be assessed from above, with the examiner looking down on the head of the patient.
subclass of: PhenotypicFeature
equivalent class: HP_0000243

Nose, Wide
IAO_0000115: Interalar distance more than 2 SD above the mean for age. Apparently increased width of the nasal base and alae.
category: PhenotypicFeature
has exact synonym: Nose, Broad
type: Class
comment: The nasal width is defined as the distance between the most lateral aspects of alae nasi. A broad nasal width is often, but not necessarily, accompanied by a Wide nasal base. It may also be accompanied by increased thickness of the alae, enlarged nares, or a broad columella. The term wide nose is used by many to denote increases in not only the interalar distance but also the nasal tip, ridge and bridge. As such it is a bundled term. We do not favor this more general use of the term and instead recommend describing the individual components.
subclass of: PhenotypicFeature
equivalent class: HP_0000445

Lacrimal Punctum, Absence
IAO_0000115: No identifiable superior and/or inferior lacrimal punctum.
category: PhenotypicFeature
has related synonym: Agenesis of the Lacrimal Punctum
type: Class
comment: The openings of the tear ducts are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. Absence of the lacrimal punctum is uncommon [Ferreira et al., [2000]] and although it is typically presumed to be caused by agenesis, we avoid causal mechanisms in this terminology. There was some disagreement as to whether Nasolacrimal duct obstruction should be included in this terminology. As that assessment is primarily functional and not anatomic, it was removed.
subclass of: PhenotypicFeature
equivalent class: HP_0001092

Malar Prominence
IAO_0000115: Prominence of the malar (frontal) process of the maxilla and infraorbital area, appreciated in profile and from in front of the face.
category: PhenotypicFeature
has related synonym: Malar Hyperplasia
has related synonym: Malar Hypertrophy
type: Class
comment: The malar process is the most medial and superior portion of the maxilla, contiguous with the lateral boundary of the nasal bridge.
subclass of: PhenotypicFeature
equivalent class: HP_0010620

Clinodactyly
IAO_0000115: A digit that is laterally curved in the plane of the palm.
category: PhenotypicFeature
has related synonym: Incurved Finger
type: Class
comment: The curvature in this term is restricted to the phalanges and does not refer to deviation at the MCPJ/MTPJ (see Radial deviation of the fingers). Typically involves an abnormally shaped middle phalanx, but this is not obligate. The identity of the finger/toe should be specified and the directionality of the deviation. This finding is most common in F5, and is almost always radial, but can be seen in any digit and can be in either direction. A similar effect can be created by radial angulation within the distal phalanx with epiphyseal thickening, which is called Kirner deformity or dystelephalangy [Ozonoff, [1992]].
subclass of: PhenotypicFeature
equivalent class: HP_0030084

Ala Nasi, Cleft
IAO_0000115: Notch in the margin of the ala nasi.
category: PhenotypicFeature
has exact synonym: Ala Nasi, Notched
has related synonym: Ala Nasi, Coloboma
type: Class
comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a cleft ala nasi, but have a severely Underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. The term coloboma has been replaced because a coloboma is a remnant of a physiologically occurring discontinuity of tissue; the alae nasi do not have such a discontinuity.
subclass of: PhenotypicFeature
equivalent class: HP_0003191

Columella, Low Hanging
IAO_0000115: Columella extending inferior to the level of the nasal base, when viewed from the side.
category: PhenotypicFeature
has exact synonym: Columella Below Alae Nasi
has exact synonym: Columella, Low
has related synonym: Columella, Rounded
type: Class
comment: This feature may occur with or without low insertion of the columella. It may be confused with an Overhanging nasal tip which may co-occur but the two should be assessed and coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0009765

Ectropion
IAO_0000115: An outward turning (eversion) or rotation of the eyelid margin.
category: PhenotypicFeature
type: Class
comment: This term is derived from Cheng and Biglan [2002]. This finding is frequently associated with overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid. Modifiers such as lower and lateral may be applied as appropriate.
subclass of: PhenotypicFeature
equivalent class: HP_0000656

Nasal Base, Wide
IAO_0000115: Increased distance between the attachments of the alae nasi to the face.
category: PhenotypicFeature
has exact synonym: Nasal Base, Broad
type: Class
comment: There is a marked difference in width of the nasal base depending on ethnic background.
subclass of: PhenotypicFeature
equivalent class: HP_0012810

Toe, Small
IAO_0000115: Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.
category: PhenotypicFeature
type: Class
comment: This is an acknowledged bundled term. There are no standards for this finding, clinical judgment must be used. The affected toes should be numbered.
subclass of: PhenotypicFeature
equivalent class: HP_0030031

Lobe, Anterior Crease(s)
IAO_0000115: Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.
category: PhenotypicFeature
type: Class
comment: Shallow grooves or indentations are quite common, especially in large lobes. Ear lobe creases may arise postnatally [Chitayat et al., [1990]]. Posterior helical pits can be a related finding but should be assessed and coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0009908

Jaw, Narrow
IAO_0000115: Bigonial distance (lower facial width) more than 2 SD below the mean. Apparently decreased width of the lower jaw (mandible) when viewed from the front.
category: PhenotypicFeature
has exact synonym: Lower Face, Narrow
has exact synonym: Mandible, Narrow
type: Class
comment: This dimension is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards [Farkas, [1981]].
subclass of: PhenotypicFeature
equivalent class: HP_0012801

Antihelical Shelf
IAO_0000115: Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.
category: PhenotypicFeature
has exact synonym: Conchal Shelf
type: Class
comment: In marked cases this often appears to be associated with lack of lateral protrusion of the antihelix.
subclass of: PhenotypicFeature
equivalent class: HP_0011233

Nasal Ridge, Narrow
IAO_0000115: Decreased width of the nasal ridge.
category: PhenotypicFeature
has related synonym: Nose, Pinched
type: Class
comment: A narrow nasal ridge may appear sharp, but this is not obligate. There is no objective measure of width.
subclass of: PhenotypicFeature
equivalent class: HP_0000418

Forehead, Prominent
IAO_0000115: Forward prominence of the entire forehead, due to protrusion of the frontal bone.
category: PhenotypicFeature
has related synonym: Forehead, Bulging
type: Class
comment: This is not the same as Frontal bossing.
subclass of: PhenotypicFeature
equivalent class: HP_0011220

Palpebral Fissure, Almond-Shaped
IAO_0000115: A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond; thus, the maximum distance between the fissures is offset from, and medial to, the center point.
category: PhenotypicFeature
type: Class
comment: The almond configuration tends to dissipate with time as the surrounding tissues (e.g., eyelid, nasal bridge) grow.
subclass of: PhenotypicFeature
equivalent class: HP_0007874

Palate, High
IAO_0000115: Height of the palate more than 2 SD above the mean. Palatal height at the level of the first permanent molar more than twice the height of the teeth.
category: PhenotypicFeature
has exact synonym: High, Arched Palate
type: Class
comment: The measuring device for this assessment is described in Hall et al. [2006]. A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and applied inaccurately.
subclass of: PhenotypicFeature
equivalent class: HP_0000218

Finger, Partial Absence of
IAO_0000115: The absence of a phalangeal segment of a finger.
category: PhenotypicFeature
has related synonym: Hypophalangy
type: Class
comment: The part that is absent may be specified. The distal modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The proximal modifier specifies the loss of the proximal or middle phalanx with the nail still present and/or the radiographic finding of a remaining phalanx that is similar to a distal phalanx. It may be difficult to determine which phalanx is absent without X-rays and even then, there are circumstances where the missing bone may not be exactly identified (note that no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective will have to be removed. This finding is distinct from Short fingers.
subclass of: PhenotypicFeature
equivalent class: HP_0011299

Nail, Thin
IAO_0000115: Nail that appears thin when viewed on end.
category: PhenotypicFeature
type: Class
comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified.
subclass of: PhenotypicFeature
equivalent class: HP_0001816

Lip Pit
IAO_0000115: Depression located on the vermilion of the lower lip, usually paramedian.
category: PhenotypicFeature
has exact synonym: Lip Fistula
type: Class
comment: A lip pit may be connected by a fistula to mucous minor salivary glands in the lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commissure (cheilion) are distinct from lip pits; see Commissural pit.
subclass of: PhenotypicFeature
equivalent class: HP_0100267

Nasal Tip, Bifid
IAO_0000115: Visually assessable vertical indentation, cleft, or depression of the nasal tip.
category: PhenotypicFeature
has related synonym: Nasal Cartilages, Separated
type: Class
comment: Note that this definition does not require that the tip is wide. The division should be visible at inspection and not just palpable, as a palpable bifid tip is usual. If a bifid nasal tip goes along with an indentation or cleft of the nasal ridge and the nasal bridge, this should be coded as Bifid nose.
subclass of: PhenotypicFeature
equivalent class: HP_0000456

Telecanthus
IAO_0000115: Distance between the inner canthi more than 2 SD above the mean. Apparently increased distance between the inner canthi.
category: PhenotypicFeature
has exact synonym: Dystopia Canthorum
type: Class
comment: Telecanthus may be present without (Fig. A) or with (Fig. B) Widely spaced eyes. In the latter case, Widely spaced eyes should be coded separately. Inner canthal distance varies among ethnic groups. Norms are available for American Africans [Murphy and Laskin, [1990]], Chinese [Wu et al., [2000]], and Caucasians [Laestadius et al., [1969]; Feingold and Bossert, [1974]; Merlob et al., [1984]; Evereklioglu et al., [2001]]. In the presence of an Epicanthal fold, ascertainment of inner canthal distance can be difficult.
subclass of: PhenotypicFeature
equivalent class: HP_0000506

Lobe, Uplifted
IAO_0000115: Lateral surface of ear lobe faces superiorly.
category: PhenotypicFeature
has exact synonym: Lobe, Upturned
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0009909

Eye, Deeply Set
IAO_0000115: An eye that is more deeply recessed into the plane of the face than is typical.
category: PhenotypicFeature
has exact synonym: Sunken Eyes
type: Class
comment: This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer.
subclass of: PhenotypicFeature
equivalent class: HP_0000490

Oral Frenulum, Accessory
IAO_0000115: Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.
category: PhenotypicFeature
has exact synonym: Extra Oral Frenulum
has exact synonym: Supernumerary Oral Frenulum
type: Class
comment: This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately.
subclass of: PhenotypicFeature
equivalent class: HP_0000191

Retrognathia
IAO_0000115: Posteriorly positioned lower jaw, which is set back from the plane of the face when viewed from the side but not from the front.
category: PhenotypicFeature
has exact synonym: Chin, Retruded
has exact synonym: Mandible, Retruded
has exact synonym: Retrognathism
type: Class
comment: This feature may be accompanied by micrognathia (microretrognathia) in which case both retrognathia and micrognathia should be specified and coded separately. Alternatively, it may be a mismatch in the relative position of the mandible and premaxilla, with normal mandibular length and premaxillary prominence and is accompanied by a class II malocclusion.
subclass of: PhenotypicFeature
equivalent class: HP_0000278

Eyebrow, Highly Arched
IAO_0000115: Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
category: PhenotypicFeature
type: Class
comment: Most eyebrows have some arch with down turning medially and laterally. We know of no normative data for eyebrow arching. Identifying this feature is dependent on the experience of the observer. It may help to closely compare the shape/arching with that of siblings and parents.
subclass of: PhenotypicFeature
equivalent class: HP_0002553

Nasal Tip, Broad
IAO_0000115: Increase in width of the nasal tip.
category: PhenotypicFeature
has exact synonym: Nasal Tip, Wide
type: Class
comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term.
subclass of: PhenotypicFeature
equivalent class: HP_0000455

Ear, Focal Absence
IAO_0000115: Absence of a localized portion of the ear, when that cannot be described by a more precise term (e.g., absent ear lobe).
category: PhenotypicFeature
type: Class
comment: This definition is in the terminology set to acknowledge that there may be particular instances of absent structures not captured by the included terms. The specific affected area should be noted. For example, focal absence of the triangular fossa.
subclass of: PhenotypicFeature
equivalent class: HP_0400003

Midface Retrusion
IAO_0000115: Posterior positioning and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
category: PhenotypicFeature
has related synonym: Midface Hypoplasia
type: Class
comment: This term represents underdevelopment of the maxilla (upper jaw) in length (decreased midface height) or depth (retrusion of the maxilla). In the presence of normal mandible size, midface retrusion may give the appearance of prognathism. Caution should be used in making this assessment in edentulous patients. This is different from a Flat face.
subclass of: PhenotypicFeature
equivalent class: HP_0011800

Finger, Small
IAO_0000115: Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.
category: PhenotypicFeature
has related synonym: Hypoplastic Finger
has related synonym: Underdeveloped Finger
type: Class
comment: This is a bundled term, comprising Short finger and Slender digit, but it is so widely used that it is included. This term is only used if the finger has the normal number of phalangeal segments. An appropriate alternative term for the first digit is Small thumb, when it is the only digit affected. When a thumb and one or more fingers are affected, it may be more economical to specify Small fingers, F1-5 instead of separately specifying Small thumb and Small fingers F2-5.
subclass of: PhenotypicFeature
equivalent class: HP_0030033

Eyes, Closely Spaced
IAO_0000115: Interpupillary distance more than 2 SD below the mean OR Interpupillary distance below the 3rd centile. The interpupillary distance appears to be decreased.
category: PhenotypicFeature
has exact synonym: Hypotelorism
type: Class
comment: The finding is measured according to Hall et al. [2007]. Note that the data from Hall et al. [2007] show SD for newborns and centiles for older patients. In the latter data, there is a continuing increase in this measurement between 14 and 15 years of age, so in the objective finding cannot be made using these norms in persons above 15 years of age. See Figure 3 for a gestalt of normal and abnormal eye spacing.
subclass of: PhenotypicFeature
equivalent class: HP_0000601

Nail, Concave
IAO_0000115: The natural longitudinal (P/D) convex arch is not present or is inverted.
category: PhenotypicFeature
has related synonym: Koilonychia
has related synonym: Spoon Shaped Nails
type: Class
comment: This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. The affected digits should be specified. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave.
subclass of: PhenotypicFeature
equivalent class: HP_0001598

Glabella, Depressed
IAO_0000115: Posterior positioning of the midline forehead between the supraorbital ridges.
category: PhenotypicFeature
type: Class
comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. The term "depressed" used here is not meant to signify an active process.
subclass of: PhenotypicFeature
equivalent class: HP_0011222

Metatarsus Adductus
IAO_0000115: The metatarsals are deviated medially (tibially).
category: PhenotypicFeature
type: Class
comment: This is considered subjective, as there is no objective threshold for the finding.
subclass of: PhenotypicFeature
equivalent class: HP_0001840

Ablepharon
IAO_0000115: Absent eyelids.
category: PhenotypicFeature
has exact synonym: Absent Eyelids
type: Class
comment: In Ablepharon the globe is continuously exposed [Stevens and Sargent, [2002]]. It is arguable whether true aplasia of the eyelids exists, or whether this represents severe hypoplasia. Nevertheless, as it is difficult or impossible to make this distinction on clinical grounds, the term was felt to be useful.
subclass of: PhenotypicFeature
equivalent class: HP_0011224

Occiput, Flat
IAO_0000115: Reduced convexity of the occiput (posterior part of skull).
category: PhenotypicFeature
type: Class
comment: Reduced convexity of the occiput gives an appearance of flattening. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Brachycephaly (which should be coded separately), and may be observed more frequently when an infant is placed to sleep on his/her back.
subclass of: PhenotypicFeature
equivalent class: HP_0005469

Synophrys
IAO_0000115: Meeting of the medial eyebrows in the midline.
category: PhenotypicFeature
has related synonym: Unibrow
type: Class
comment: Cosmetic hair removal or shaving may obscure this feature. It is controversial whether the medial eyebrows must meet in the midline to warrant this descriptor, as opposed to eyebrows that extend markedly toward the midline but do not meet.
subclass of: PhenotypicFeature
equivalent class: HP_0000664

Midface Prominence
IAO_0000115: Anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle.
category: PhenotypicFeature
has related synonym: Midface Hyperplasia
has related synonym: Midface Hypertrophy
type: Class
comment: This term represents increased size of the maxilla (upper jaw) in length (increased midface height) or depth (midface prominence). In the presence of normal mandible size, maxillary prominence may give the appearance of retrognathia.
subclass of: PhenotypicFeature
equivalent class: HP_0012371

Cheekbone Prominence
IAO_0000115: Enlargement of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin.
category: PhenotypicFeature
has exact synonym: Zygomatic Prominence
has related synonym: Zygomatic hyperplasia
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0012370

Ray, Absent
IAO_0000115: The absence of all phalanges of a digit and the associated metacarpal /metatarsal.
category: PhenotypicFeature
type: Class
comment: This descriptor requires, in addition to the absence of the phalanges, absence of the metacarpal or metatarsal. Compare this to Absent thumb, Absent hallux, Absent toes, and Absent fingers. In most cases, the absent metacarpal or metatarsal can be assessed by palpation, but in some cases radiographs may be useful. This definition excludes Split hand and Split foot. If a patient meets the definition of either of those terms, they should be used and Absent ray should not.
subclass of: PhenotypicFeature
equivalent class: HP_0030030

Hand, Osseous Syndactyly of
IAO_0000115: Lateral (A/P) fusion of the digits (phalanges and/or metacarpals) by hard tissue (cartilage and/or bone).
category: PhenotypicFeature
has related synonym: Syndactyly (without adjective)
type: Class
comment: Metacarpal syndactyly can be demonstrated by either a maneuver whereby the two metacarpals cannot be independently manipulated by the examiner (see Mesoaxial polydactyly for a description of this maneuver). Phalangeal syndactyly (typically seen in what used to be called a mitten hand) may be difficult to demonstrate without X-rays. The description may include the bones that are fused. Osseous syndactyly is distinct from Symphalangy where the phalanges are fused at the joint longitudinally (P/D axis). See Mesoaxial polydactyly for discussion of the use of this term with polydactyly.
subclass of: PhenotypicFeature
equivalent class: HP_0010492

Tooth, Supernumerary
IAO_0000115: Extra tooth or teeth.
category: PhenotypicFeature
type: Class
comment: The most frequent supernumerary tooth is a mesiodens, which occurs between the two maxillary central incisors. Often it fails to erupt, but creates a large anterior diastema, and would not be detected on physical examination (requires X-ray evaluation). This designation excludes coexistence of primary and permanent dentition due to delayed loss of the former.
subclass of: PhenotypicFeature
equivalent class: HP_0011069

Lobe, Attached
IAO_0000115: Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.
category: PhenotypicFeature
type: Class
comment: The earlobe does not have a dependent portion.
subclass of: PhenotypicFeature
equivalent class: HP_0009907

Hand, Postaxial Polydactyly of
IAO_0000115: Presence of a supernumerary digit that is not a thumb.
category: PhenotypicFeature
has exact synonym: Posterior Polydactyly
has related synonym: Posterior Duplication of the Limb/Hand
has related synonym: Ulnar Polydactyly
type: Class
comment: Although it is appealing to believe in many cases that the supernumerary (non-thumb) digit is the most ulnar, there may be no evidence for this. When the digit is de minimus, this seems reasonable by parsimony. When it is fully formed with a supernumerary metacarpal and functional, it may be impossible to determine which of the fingers is supernumerary. Nevertheless, the designation as postaxial is reasonable given the tradition of this designation. Postaxial polydactyly has been divided into two types: A (a fully formed digit) and B (digitus minimus, or a pedunculated, non-articulating, non-functional appendage). We recognize these subtypes but note that post-axial polydactyly actually represents a spectrum from type A to type B. When the type is indeterminate, no subtype is specified.
subclass of: PhenotypicFeature
equivalent class: HP_0100259

Toes, Cutaneous Syndactyly of
IAO_0000115: A soft tissue continuity in the A/P axis between adjacent foot digits that involves at least half of the P/D length of one of the two involved digits. A soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.
category: PhenotypicFeature
has related synonym: Syndactyly (without specification)
has related synonym: Zygodactyly
type: Class
comment: The digits (or part of) are joined together by soft tissue that is not normally present between the digits at that point in the P/D axis. The definition of toe syndactyly is subtly different from that of the hand. The definition used for the hands was thought to be difficult with toes, as the phalangeal lengths are small and an assessment of the degree of syndactyly is impractical. A modifier of complete may be used if the syndactyly extends to the distal end of the nail bed. The affected digits should be specified.
subclass of: PhenotypicFeature
equivalent class: HP_0010621

Tongue, Smooth
IAO_0000115: Glossy appearance of the entire tongue surface.
category: PhenotypicFeature
type: Class
comment: This is due to reduction in number and/or size of the filiform papillae. A geographic tongue has localized areas of smoothening, but not sufficient to warrant use of the term Smooth tongue.
subclass of: PhenotypicFeature
equivalent class: HP_0010298

Foot, Partial Absence of
IAO_0000115: An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals.
category: PhenotypicFeature
type: Class
comment: See Foot, absent for a related term
subclass of: PhenotypicFeature
equivalent class: HP_0030032

Metopic Ridge, Prominent
IAO_0000115: Vertical bony ridge positioned in the midline of the forehead.
category: PhenotypicFeature
has exact synonym: Metopic Suture, Prominent
type: Class
comment: The ridge may extend from the hairline to the glabella or may be partial.
subclass of: PhenotypicFeature
equivalent class: HP_0005487

Foot, Absent
IAO_0000115: The total absence of the foot, with no bony elements distal to the tibia or fibula.
category: PhenotypicFeature
has exact synonym: Apodia
type: Class
comment: See Foot, partial absence of, for a related definition.
subclass of: PhenotypicFeature
equivalent class: HP_0011301

Philtrum, Midline Sinus
IAO_0000115: Pit in the midline of the philtral groove.
category: PhenotypicFeature
type: Class
comment: Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella [Asahina et al., [1997]].
subclass of: PhenotypicFeature
equivalent class: HP_0011828

Foot, Long
IAO_0000115: Foot length more than 2 SD above the mean for a newborn of 27-41 weeks gestation OR foot length above the 97th centile for individuals from birth to 16 years of age. A foot that appears longer than expected for age.
category: PhenotypicFeature
type: Class
comment: Note that for females over the age of 16 years, the curves are essentially flat by 15 years of age, so the 16-year-old norms and distribution can be used for older individuals [Anderson et al., [1956]; Hall et al., [2007]]. However, the male norms still have significant growth at 16 years, where the graph ends. Therefore, only subjective assessments can be made for males over the age of 16 years. For infants, the norms are specified in SD, per the primary source [Merlob et al., [1984]]. Because of the wide range of normal for foot measurements, it may be hard to discriminate a long foot of normal width from that of a narrow foot of normal length, thus the subjective definition is substantially inferior. If the toes are also long, that should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0001833

Fingers, Overlapping
IAO_0000115: A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.
category: PhenotypicFeature
type: Class
comment: This descriptor is ordered depending on which digits are involved (see figure legend for examples). The affected digits should be specified. The ordering of the numbers specifies which digit is dorsal, that is, with dorsum of the hand facing upward the digit on top is/are recorded first separated by a comma from the digit that is/are overlapped. Fingers that are laterally deviated, but do not rest on top of adjacent fingers should be coded as Clinodactyly.
subclass of: PhenotypicFeature
equivalent class: HP_0010557

Pes Cavus
IAO_0000115: The presence of an unusually high plantar arch.
category: PhenotypicFeature
has related synonym: High Arch
type: Class
comment: This is a subjective definition for which we could identify no thresholds or standards. Examiners must rely on their experience to make this assessment.
subclass of: PhenotypicFeature
equivalent class: HP_0001761

Alveolar Ridge Overgrowth
IAO_0000115: Increased width of the alveolar ridges.
category: PhenotypicFeature
has related synonym: Alveolar Ridge Hypertrophy
type: Class
comment: This finding may or may not be accompanied by increased height of the alveolar ridge. This is not to be confused with Prominent palatal ridges or Gingival overgrowth. This distinction of gingival from alveolar ridge overgrowth may be difficult, especially in milder degrees of the finding.
subclass of: PhenotypicFeature
equivalent class: HP_0009085

Face, Triangular
IAO_0000115: Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
category: PhenotypicFeature
type: Class
comment: This feature is distinct from Narrow jaw where width of the midface is unchanged.
subclass of: PhenotypicFeature
equivalent class: HP_0000325

Mouth, Downturned Corners of
IAO_0000115: Oral commissures positioned inferior to the midline labial fissure.
category: PhenotypicFeature
has related synonym: Carp Mouth
has related synonym: Fish Mouth (pejorative terms)
type: Class
comment: This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged.
subclass of: PhenotypicFeature
equivalent class: HP_0002714

Premaxillary Prominence
IAO_0000115: Overdevelopment of the premaxilla.
category: PhenotypicFeature
has exact synonym: Premaxillary Hyperplasia
type: Class
comment: As a consequence of prominence of the premaxilla, the overlying structures, the nose and philtrum, may appear prominent. There is increased convexity of the face and an increased nasolabial angle. In the presence of a normal sized mandible, retrognathia may be appreciated.
subclass of: PhenotypicFeature
equivalent class: HP_0010759

Palate, Narrow
IAO_0000115: Width of the palate more than 2 SD below the mean. apparently decreased palatal width.
category: PhenotypicFeature
type: Class
comment: Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term "gothic palate" is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow.
subclass of: PhenotypicFeature
equivalent class: HP_0000189

Nose, Bifid
IAO_0000115: Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.
category: PhenotypicFeature
type: Class
comment: This is a bundled term, but as it is useful in practice it is kept here. If it is only an indentation or cleft of the nasal tip, this should be coded as Bifid nasal tip.
subclass of: PhenotypicFeature
equivalent class: HP_0011803

Cryptotia
IAO_0000115: Invagination of the superior part of the auricle under a fold of temporal skin.
category: PhenotypicFeature
type: Class
comment: There are associated anomalies of the upper antihelix and crura. The upper one-third of the auricle is primarily affected and there is an inferomedial displacement of the Helical Darwin tubercle. Two types are recognized: Type I, the antihelix and superior crus are reduced in size (Fig. a); Type II, it is the antihelix and inferior crus that are affected (Fig. b) [Hirose et al., [1985]].
subclass of: PhenotypicFeature
equivalent class: HP_0011252

Premaxillary Underdevelopment
IAO_0000115: Reduction in size of the premaxilla.
category: PhenotypicFeature
has exact synonym: Premaxillary Hypoplasia
type: Class
comment: As a consequence of underdevelopment of the premaxilla, the overlying structures, the nose and philtrum, may appear flattened. There is increased concavity of the face and a reduced nasolabial angle. In the presence of a normal sized mandible, prognathism may be appreciated.
subclass of: PhenotypicFeature
equivalent class: HP_0010650

Eyes, Widely Spaced
IAO_0000115: Interpupillary distance more than 2 SD above the mean (newborns 27-41 weeks gestational age) OR Interpupillary distance above the 97th centile (0-15 years of age). The interpupillary distance appears to be increased.
category: PhenotypicFeature
has exact synonym: Hypertelorism
type: Class
comment: The finding is measured according to Hall et al. [2007]. Note that the data from Hall et al. [2007] show continuing increase in this measurement between 14 and 15 years of age, so this finding should only be made according to the subjective definition in persons above 15 years of age. It is important to distinguish between truly increased interpupillary distance and the apparently increased spacing that is caused by Telecanthus (see that entry for additional discussion). See Figure 3 for an illustration of variations of eye spacing.
subclass of: PhenotypicFeature
equivalent class: HP_0000316

Hallux, Absent
IAO_0000115: The absence of both phalanges of a hallux and the associated soft tissues.
category: PhenotypicFeature
has exact synonym: Absent Great Toe
has related synonym: Hypodactyly
has related synonym: Oligodactyly
type: Class
comment: This descriptor does not require absence of the metatarsal. The definition excludes partial absent hallux. Oligodactyly and hypodactyly are replaced with more specific terms to allow the distinction of loss of a preaxial digit (thumb or great toe) from loss of digits 2-5. When a great toe and one or more other toes are absent, it may be more economical to specify Absent toes, T1-3 instead of separately specifying Absent hallux and Absent toes T2-3.
subclass of: PhenotypicFeature
equivalent class: HP_0012386

Hand, Trident
IAO_0000115: Splaying of F2-4 along the A/P axis (in the plane of the palm) with relatively normal positioning of F1 and F5.
category: PhenotypicFeature
type: Class
comment: This term is a subtype of splaying of the digits, but its diagnostic utility warrants a separate definition. Note is made that there were a number of different definitions of this term among the terminology group members. However, this definition was the consensus.
subclass of: PhenotypicFeature
equivalent class: HP_0004060

Cupid's Bow, Absent
IAO_0000115: Lack of paramedian peaks and median notch of the upper lip vermilion.
category: PhenotypicFeature
type: Class
comment: This bow is often absent in a Thin vermilion of the upper lip, but that should be assessed separately. This finding is commonly associated with Smooth philtrum, but that should be coded separately [Hennekam et al., [2009]].
subclass of: PhenotypicFeature
equivalent class: HP_0010800

Nasal Cartilage, Absent
IAO_0000115: Lack of a palpable nasal cartilage.
category: PhenotypicFeature
type: Class
comment: This feature may be accompanied by a deficiency of the nasal bone. Absence of the nasal cartilage may lead to a Depressed nasal tip, which should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0030028

Diastema
IAO_0000115: Increased space between two adjacent teeth in the same dental arch.
category: PhenotypicFeature
type: Class
comment: Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth.
subclass of: PhenotypicFeature
equivalent class: HP_0000699

Oligodontia
category: PhenotypicFeature
type: Class
comment: The term is not defined here since the finding requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al., [2001]].
subclass of: PhenotypicFeature
equivalent class: HP_0000677

Palm, Long
IAO_0000115: For children from birth to 16 years of age the length of the palm is more than the 97th centile. The length of the palm appears relatively long compared to the finger length or the limb length.
category: PhenotypicFeature
has related synonym: Long Hand
type: Class
comment: Palm length standards are found in Feingold and Bossert [1974] and Hall et al. [2007]. The palm is measured from the distal wrist flexion crease to the flexion crease of the F3 MCPJ. The term long hand should not be used as it is a bundled definition of two readily separable terms, Long fingers (which, as noted above, can itself be a bundled term) and Long palm.
subclass of: PhenotypicFeature
equivalent class: HP_0011302

Hand, Radial Deviation of
IAO_0000115: Divergence of the longitudinal axis of the hand at the wrist in a anterior (radial) direction.
category: PhenotypicFeature
has related synonym: Clubhand
has related synonym: Radial Clubhand
type: Class
comment: This finding may be associated with a short or absent radius, but that is not required and should be coded separately. The term "clubhand" is replaced because it was felt to be pejorative.
subclass of: PhenotypicFeature
equivalent class: HP_0009486

Proptosis
IAO_0000115: An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
category: PhenotypicFeature
has exact synonym: Prominent Eyes
type: Class
comment: This finding should be distinguished from underdevelopment of the supraorbital ridge or maxilla/zygoma. In Proptosis, the globe is anteriorly protuberant in comparison to the overall plane of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer.
subclass of: PhenotypicFeature
equivalent class: HP_0000520

Proboscis
IAO_0000115: a fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.
category: PhenotypicFeature
type: Class
comment: A proboscis has a single cavity [McGrath, [1992]]. It may be found in association with a malformed nose and absence of one or both nares.
subclass of: PhenotypicFeature
equivalent class: HP_0012806

Toes, Widely Spaced
IAO_0000115: An overall widening of the spaces between the digits.
category: PhenotypicFeature
type: Class
comment: This description is based on the width of the gap between the toes. It is usually used when the width of the toes remains normal rather than to describe a situation where the toes are thin or narrow. This term should not be used for the situation where the finding is limited to a gap between T1,2 (see Sandal gap).
subclass of: PhenotypicFeature
equivalent class: HP_0008094

Tooth, Premature Loss
IAO_0000115: Exfoliation of a primary tooth or teeth earlier than the normal range.
category: PhenotypicFeature
type: Class
comment: See ranges in Kleigman et al. [2007] and Gorlin et al. [2001]. The range of ages in years for normal exfoliation of primary teeth usually precedes the mean age of eruption of each tooth by a year or less.
subclass of: PhenotypicFeature
equivalent class: HP_0006480

Helix, Overfolded
IAO_0000115: Excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear, as illustrated in Figure 2 from Helix, Cleft and the Figure to the right.
category: PhenotypicFeature
type: Class
comment: This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable, and the range is illustrated in Figures 2 and 3 from Helix, Cleft.
subclass of: PhenotypicFeature
equivalent class: HP_0000396

Skull, Cloverleaf
IAO_0000115: Trilobar skull configuration when viewed from the front or behind.
category: PhenotypicFeature
has exact synonym: Kleeblattschadel
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0002676

Lobe, Small
IAO_0000115: Reduced volume of the earlobe (Fig. a,b).
category: PhenotypicFeature
has related synonym: Hypoplastic Lobe
has related synonym: Hypotrophic Lobe
type: Class
comment: All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable, and the range is illustrated to the right.
subclass of: PhenotypicFeature
equivalent class: HP_0000385

Eruption, Delayed
IAO_0000115: Tooth eruption more than 2 SD beyond the mean eruption age.
category: PhenotypicFeature
type: Class
comment: This term should not be used in a patient with Gingival overgrowth. There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al., [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum.
subclass of: PhenotypicFeature
equivalent class: HP_0000684

Pit, Preauricular
IAO_0000115: Small indentation anterior to the insertion of the ear.
category: PhenotypicFeature
type: Class
comment: The location of these pits is the plane of fusion of the first branchial cleft [Wood-Jones and I-Chuan, [1933]].
subclass of: PhenotypicFeature
equivalent class: HP_0004467

Thumb, Hitchhiker
IAO_0000115: With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle ≥ 90 degrees with the long axis of the hand.
category: PhenotypicFeature
has related synonym: Abducted Thumb
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0001234

Vermilion, Lower Lip, Everted
IAO_0000115: Inner aspect of the lower lip vermilion (normally apposing the teeth) visible in a frontal view.
category: PhenotypicFeature
has related synonym: Drooping Lower Lip
type: Class
comment: In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as "pouting," but this designation is a functional term.
subclass of: PhenotypicFeature
equivalent class: HP_0000232

Uvula, Broad
IAO_0000115: Increased width of the uvula.
category: PhenotypicFeature
type: Class
comment: This finding often accompanies a Submucous cleft palate, but this should be coded separately. A longitudinal groove indicating incomplete fusion of the two parts of the uvula may be present with a broadened uvula and has sometimes been called abortive cleft uvula.
subclass of: PhenotypicFeature
equivalent class: HP_0010809

Face, Square
IAO_0000115: Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.
category: PhenotypicFeature
type: Class
comment: Square face shape is usually related to increased lower facial width (a bigonial distance more than 2 SD above the mean). In Broad jaw the lower face is wider than the upper face.
subclass of: PhenotypicFeature
equivalent class: HP_0000321

Toe, Slender
IAO_0000115: Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
category: PhenotypicFeature
has exact synonym: Narrow Digit
has exact synonym: Narrow Toe
has related synonym: Arachnodactyly
has related synonym: Thin Digits
type: Class
comment: The affected digits should be specified. The assessment of this finding is difficult when the digits are long. The bundled and pejorative term arachnodactyly is replaced by the separate descriptors Long toe and Slender toe.
subclass of: PhenotypicFeature
equivalent class: HP_0011308

Hand, Clenched
IAO_0000115: All digits held completely flexed at the metacarpophalangeal and interphalangeal joints.
category: PhenotypicFeature
type: Class
comment: Is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately.
subclass of: PhenotypicFeature
equivalent class: HP_0001188

Hallux, Broad
IAO_0000115: Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
category: PhenotypicFeature
has exact synonym: Broad Great Toe
type: Class
comment: Note that girth may be increased in a broad hallux, but this must be distinguished from Macrodactyly because there the length is also increased. This assessment may be difficult when the hallux is short. Note the separate definition for Broad toes. When a great toes and one or more other toes are affected, it may be more economical to specify Broad toes, T1-5 instead of separately specifying Broad hallux and Broad toes T2-5.
subclass of: PhenotypicFeature
equivalent class: HP_0010055

Chin, Pointed
IAO_0000115: A marked tapering of the lower face to the chin.
category: PhenotypicFeature
type: Class
comment: The two rami of the mandible meet at an acute angle.
subclass of: PhenotypicFeature
equivalent class: HP_0000307

Helix, Darwin Tubercle
IAO_0000115: Small expansion of the helical fold at the junction of the superior and descending portions of the helix (Fig. a).
category: PhenotypicFeature
type: Class
comment: Defects at other points along the helix are coded as Cleft helix.
subclass of: PhenotypicFeature
equivalent class: HP_0011261

Neck, Long
IAO_0000115: Increased distance from the point where neck and shoulders meet to the inferior margin of the occipital bone.
category: PhenotypicFeature
type: Class
comment: No objective measure is available.
subclass of: PhenotypicFeature
equivalent class: HP_0000472

Columella, Broad
IAO_0000115: Increased width of the columella.
category: PhenotypicFeature
has exact synonym: Columella, Wide
type: Class
comment: The columella should be viewed from below. This feature should be distinguished from Narrow nares although both may be present in a given individual.
subclass of: PhenotypicFeature
equivalent class: HP_0010761

Palpebral Fissure, Long
IAO_0000115: Distance between the medial and lateral canthi is more than 2 SD above the mean for age. Apparently increased length of the palpebral fissures.
category: PhenotypicFeature
has related synonym: Wide Palpebral Fissure
type: Class
comment: Measurement techniques and norms are as specified in Hall et al. [2007] and Farkas [1994]. The term "wide palpebral fissure" is discouraged because this term is vague with respect to which dimension (vertical vs. horizontal) it refers to, coupled with the popular definition of "wide-eyed," which refers to palpebral fissure height.
subclass of: PhenotypicFeature
equivalent class: HP_0000637

Philtrum, Short
IAO_0000115: Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Apparently decreased distance between nasal base and midline upper lip vermilion border.
category: PhenotypicFeature
type: Class
comment: Usually the nasal columella inserts at the base of the nose. A Low insertion of the columella leads to shortening of the philtrum, but these should be coded separately. Using the insertion of the columella as the upper limit of the philtrum would then lead to a false shortening. An Everted upper lip often leads to the subjective appearance of a short philtrum but these should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0000322

Face, Long
IAO_0000115: Facial height (length) is more than 2 SD above the mean. An apparent increase in the height (length) of the face.
category: PhenotypicFeature
has exact synonym: Face, Elongated
type: Class
comment: Objective measurement of face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline [Farkas, [1981]]. Long face is distinct from Narrow face.
subclass of: PhenotypicFeature
equivalent class: HP_0000276

Polydactyly, Mirror Image
IAO_0000115: A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes.
category: PhenotypicFeature
type: Class
comment: This is considered to be a subjective assessment. Although polydactyly is obviously objective, the assessment of the A/P symmetry component is arguably subjective. It may be associated with a forearm that has two ulnae, but this is not required for the finding to be made.
subclass of: PhenotypicFeature
equivalent class: HP_0010689

Malar Flattening
IAO_0000115: Underdevelopment of the malar (frontal) process of the maxilla, appreciated in profile and/or by palpation.
category: PhenotypicFeature
has related synonym: Malar Hypoplasia (surface examination cannot distinguish hypoplasia from hypotrophy)
type: Class
comment: The malar process is the most medial and superior portion of the maxilla, contiguous with the lateral boundary of the nasal bridge.
subclass of: PhenotypicFeature
equivalent class: HP_0000272

Uvula, Long
IAO_0000115: Increased length of the uvula.
category: PhenotypicFeature
type: Class
comment: In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer.
subclass of: PhenotypicFeature
equivalent class: HP_0010810

Lip Freckle
IAO_0000115: Increased focal pigmentation of the vermilion of the lips.
category: PhenotypicFeature
has exact synonym: Lip Lentigo
type: Class
comment: Lip freckles may be accompanied by Perioral hyperpigmentation, but this should be assessed separately. Lentigo is commonly used as a synonym for freckle in reference to the vermilion, but these are distinct terms when referring to the skin.
subclass of: PhenotypicFeature
equivalent class: HP_0010798

Nasal Ridge, Convex
IAO_0000115: Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip.
category: PhenotypicFeature
has related synonym: Nose, Beaked
has related synonym: Nose, Hooked
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0000444

Vermilion, Lower Lip, Thin
IAO_0000115: Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. apparently reduced height of the vermilion of the lower lip in the frontal view.
category: PhenotypicFeature
type: Class
comment: Normal values for the height of the vermilion are available [Farkas, [1981]] but measurements are not commonly used. Most clinicians determine this feature subjectively. The height of the vermilion of the lower lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. If the lower lip vermilion is thin, the inferior border of the vermilion is less curved, and on a profile view, the lower lip vermilion is less convex than usual.
subclass of: PhenotypicFeature
equivalent class: HP_0010282

Lobe, Absent
IAO_0000115: Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura (Figs. 1 and 2).
category: PhenotypicFeature
type: Class
comment: See Attached lobe for a finding that should be distinguished from Absent lobe.
subclass of: PhenotypicFeature
equivalent class: HP_0000387

Fibrous Syngnathia
IAO_0000115: Complete or nearly complete soft tissue fusion of the alveolar ridges.
category: PhenotypicFeature
has exact synonym: Fusion of the Alveolar Ridges
type: Class
comment: This finding is associated with severely reduced mobility, or lack of mobility, between the upper and lower jaws. This finding is the severe end of a spectrum that includes Oral synechiae.
subclass of: PhenotypicFeature
equivalent class: HP_0009754

Foot, Short
IAO_0000115: A measured foot length that is more than 2 SD below the mean for a newborn of 27-41 weeks gestation OR A foot that is less than the 3rd centile for individuals from birth to 16 years of age. A foot that appears disproportionately short.
category: PhenotypicFeature
type: Class
comment: Note that for females over the age of 16 years, the curves are essentially flat by 15 years of age, so the 16-year-old norms and distribution can be used for older individuals [Anderson et al., [1956]; Hall et al., [2007]]. However, the male norms still show significant growth at 16 years, where the graph ends. Therefore, only subjective assessments can be made for older males. For infants, the norms are specified in SD, per the primary source [Merlob et al., [1984]]. Foot length includes the relatively long calcaneus and tarsal bones as well as the metatarsals and first toe, and so the hand and foot measurements may reflect different growth abnormalities. Foot length should be interpreted with caution if the individual has either Pes cavus or Pes planus.
subclass of: PhenotypicFeature
equivalent class: HP_0001773

Palm, Short
IAO_0000115: For children from birth to 16 years of age the length of the palm is less than the 3rd centile. The length of the palm appears relatively small compared to the finger length or the limb length.
category: PhenotypicFeature
has related synonym: Short Hand
type: Class
comment: Palm length is measured as described in Feingold and Bossert [1974] and Hall et al. [2007]. This term is reserved for individuals with shortening of all four metacarpals 2-5. Individuals with fewer than four shortened metacarpals (in a eudactylous hand, the metacarpals of F2-5) should be coded as Short metacarpal. See the entry for Small hand for a discussion of this finding. Short hand should not be used as it is a bundle of two readily separable terms, Short fingers (which, as noted above, can itself be a bundled term) and Short palm.
subclass of: PhenotypicFeature
equivalent class: HP_0004279

Foot, Broad
IAO_0000115: A foot for which the measured width is above the 95th centile for age. A foot that appears disproportionately wide for its length.
category: PhenotypicFeature
has exact synonym: Wide Foot
type: Class
comment: Note that the normative data [Malina et al., [1973]; Hall et al., [2007]] only include 4-16 year olds. Since foot width is still increasing at the 16-year-old age point on the graphs, extrapolation is not recommended. Therefore, persons more than 16 years of age or less than 4 years of age can only be assessed subjectively (until appropriate norms are identified or generated). The Hall et al. [2007] handbook (pp. 238-239) states that foot width should be measured from the medial aspect of the first MTPJ to the lateral aspect of the fifth MTPJ. The subjective definition should be used with caution in patients with Short feet. In persons with polydactyly that includes a supernumerary metatarsal, the measurement definition from Hall et al. [2007] would need to be modified to account for the supernumerary digit (i.e., if the patient had postaxial polydactyly, measure from the sixth MTPJ). It may be argued that this is double counting polydactyly as a wide foot, as the norms are derived from those with pentadactylous limbs.
subclass of: PhenotypicFeature
equivalent class: HP_0001769

Heel, Prominent
IAO_0000115: Exaggerated or marked projection of the posterior pole of the heel.
category: PhenotypicFeature
type: Class
comment: No sensible thresholds or landmarks could be identified for this finding so the examiners must rely on their experience.
subclass of: PhenotypicFeature
equivalent class: HP_0012428

Nasal Bridge, Narrow
IAO_0000115: Decreased width of the bony bridge of the nose.
category: PhenotypicFeature
has exact synonym: Nasal Bridge, Thin
type: Class
comment: The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age.
subclass of: PhenotypicFeature
equivalent class: HP_0000446

Blepharophimosis
IAO_0000115: A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
category: PhenotypicFeature
type: Class
comment: This term is derived from Cunniff et al. [1998]. It is an acknowledged bundled term. When palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Ptosis is the term to be used when the reduction in eyelid opening is not fixed but can be increased actively or passively. Blepharophimosis is often associated with Epicanthus inversus.
subclass of: PhenotypicFeature
equivalent class: HP_0000581

Uvula, Cleft
IAO_0000115: Uvula separated into two parts most easily seen at the tip.
category: PhenotypicFeature
has exact synonym: Bifid Uvula
type: Class
comment: Submucous cleft palate is a distinct entity.
subclass of: PhenotypicFeature
equivalent class: HP_0000193

Helix, Crus, Serpiginous
IAO_0000115: Curving course of the crus of the helix, approaching or joining the antitragus.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0011257

Chin, Vertical Crease
IAO_0000115: Vertical crease in the fat pad of the chin with the face at rest.
category: PhenotypicFeature
has exact synonym: Chin, Cleft
type: Class
comment: A vertical crease must be distinguished from an H-shaped crease of the chin.
subclass of: PhenotypicFeature
equivalent class: HP_0400001

Microcephaly
IAO_0000115: Occipito-frontal (head) circumference (OFC) less than 3rd centile compared to appropriate, age matched, normal standards. Apparently decreased size of the cranium.
category: PhenotypicFeature
has exact synonym: Head circumference, reduced
has exact synonym: OFC, reduced
has related synonym: Microcranium
type: Class
comment: Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al., [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex.
subclass of: PhenotypicFeature
equivalent class: HP_0000252

Anotia
IAO_0000115: Complete absence of any auricular structures.
category: PhenotypicFeature
has exact synonym: Ear, Absent
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0009892

Epicanthus
IAO_0000115: A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
category: PhenotypicFeature
has exact synonym: Epicanthal Fold
has exact synonym: Epicanthus Palpebralis
type: Class
comment: In extreme cases, the skin fold can start as high as the eyebrow [Hall et al., [2007]]. This is called epicanthus superciliaris.
subclass of: PhenotypicFeature
equivalent class: HP_0000286

Naris, Narrow
IAO_0000115: Slender, slit-like aperture of the nostril.
category: PhenotypicFeature
has exact synonym: Naris, Slit-like
has exact synonym: Naris, Thin
type: Class
comment: The shape of the nostrils has been classified into four main types by Paul Topinard (1830-1911) (Fig. 2). This classification is not in general use.
subclass of: PhenotypicFeature
equivalent class: HP_0009933

Uvula, Absent
IAO_0000115: Lack of the uvula.
category: PhenotypicFeature
type: Class
comment: Sometimes accompanies a Submucous cleft palate, but this should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0010292

Micrognathia
IAO_0000115: Apparently reduced length and width of the mandible when viewed from the front but not from the side.
category: PhenotypicFeature
has exact synonym: Jaw, Small
has exact synonym: Micrognathism
type: Class
comment: This is a bundled term comprising shortening and narrowing of the mandible and chin. It is defined here as it is a term in common usage.
subclass of: PhenotypicFeature
equivalent class: HP_0000347

Eyebrow, Horizontal
IAO_0000115: An eyebrow that extends straight across the brow, without curve.
category: PhenotypicFeature
has exact synonym: Eyebrow, Straight
type: Class
comment: Evaluation should be performed with the face at rest. Horizontal eyebrows are an uncommon finding.
subclass of: PhenotypicFeature
equivalent class: HP_0011228

Palmar Crease, Absent
IAO_0000115: The absence of a major crease of the palm (distal transverse crease, proximal transverse crease, or thenar crease).
category: PhenotypicFeature
type: Class
comment: This term is not used to describe the missing crease in the case of a patient with a single transverse palmar crease.
subclass of: PhenotypicFeature
equivalent class: HP_0010489

Tragus, Underdeveloped
IAO_0000115: Decreased posterolateral protrusion of the tragus (Figs. 2b [line 1] from Tragus, Absent and reference a,b from Tragus, Prominent).
category: PhenotypicFeature
has exact synonym: Small Tragus
has related synonym: Hypoplastic Tragus
has related synonym: Hypotrophic Tragus
type: Class
comment: This finding is highly variable, and the range is illustrated in Figure 2 Tragus, Absent and the Figure from Tragus, Prominent.
subclass of: PhenotypicFeature
equivalent class: HP_0011272

Palmar Crease, Deep
IAO_0000115: Excessively deep creases of the palm.
category: PhenotypicFeature
type: Class
comment: Like the term Decreased palmar creases, this assessment requires an experienced observer to distinguish this from common crease variation. One view is that deep creases are those in which lint could still get stuck, even if the palm is fully opened.
subclass of: PhenotypicFeature
equivalent class: HP_0006191

Ear, Low-Set
IAO_0000115: Upper insertion of the ear to the scalp below an imaginary horizontal passing through the inner canthi and extend that line posteriorly to the ear.
category: PhenotypicFeature
type: Class
comment: The position of the ear can be determined in four different ways [Hall et al., [2007]]. There is some controversy regarding objective assessments of ear position as methods do not place the ear with respect to a fixed plane [Hall et al., [2007]]. The Frankfurt plane uses the position of the auditory meatus as a landmark and thus can not be used to assess ear position. If palpebral fissures run horizontal they can be used to guide the plane. The definition used here minimizes the problem whereby the position of the subject's head relative to the observer may influence the subjective impression of the position of the ears. Subjective assessment of ear position is unacceptable since it is unreliable and often confounded by changes in head shape, size and tilt or changes in ear anatomy, especially the superior portion.
subclass of: PhenotypicFeature
equivalent class: HP_0000369

Palpebral Fissure, Short
IAO_0000115: Distance between the medial and lateral canthi is more than 2 SD below the mean for age. Apparently reduced length of the palpebral fissures.
category: PhenotypicFeature
type: Class
comment: Measurement techniques and norms are as specified in Hall et al. [2007] and Farkas [1994]. These sources include more complete data for Caucasians than for other groups. Decreased palpebral fissure length may be accompanied by a decreased vertical distance between the upper and lower eyelid, which gives the eyes a more slit-like appearance and may give the appearance of Ptosis, but this should be coded separately if it is present. Severe shortening of the palpebral fissures leads to Blepharophimosis.
subclass of: PhenotypicFeature
equivalent class: HP_0012745

Thumb, Absent
IAO_0000115: The absence of both phalanges of a thumb and the associated soft tissues.
category: PhenotypicFeature
has related synonym: Hypodactyly
has related synonym: Oligodactyly
type: Class
comment: This descriptor does not require absence of the metacarpal. This definition excludes Partial absence of the thumb. Oligodactyly and hypodactyly have been replaced with more specific terms to allow the distinction of loss of a thumb from loss of F2-5. The term oligodactyly is replaced because oligodactyly refers to the digits that remain, and so oligodactyly of the thumb or oligodactyly F1 is nonsensical.
subclass of: PhenotypicFeature
equivalent class: HP_0009777

Nail, Thick
IAO_0000115: Nail that appears thick when viewed on end.
category: PhenotypicFeature
has related synonym: Onychogryposis
has related synonym: Pachyonychia
type: Class
comment: No objective standard for nail thickness could be identified although an unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard.
subclass of: PhenotypicFeature
equivalent class: HP_0001805

Nasolabial Fold, Underdeveloped
IAO_0000115: Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure).
category: PhenotypicFeature
has exact synonym: Nasolabial Crease, Hypoplastic
has exact synonym: Nasolabial Crease, Underdeveloped
has exact synonym: Nasolabial Fold, Hypoplastic
has related synonym: Nasolabial Crease, Hypoplastic
has related synonym: Nasolabial Fold, Hypoplastic
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0010801

Forehead, Sloping
IAO_0000115: Inclination of the anterior surface of the forehead from the vertical more than 2 SD above the mean. Apparently excessive posterior sloping of the forehead in a lateral view.
category: PhenotypicFeature
type: Class
comment: Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical [Farkas, [1981]] with the head held in the Frankfurt horizontal.
subclass of: PhenotypicFeature
equivalent class: HP_0000340

Helix, Crus, Absent
IAO_0000115: Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0011255

Ankyloglossia
IAO_0000115: Short or anteriorly attached lingual frenulum associated with limited mobility of the tongue.
category: PhenotypicFeature
has related synonym: Ankyloglossia Inferiorum
has related synonym: Tongue Tie
type: Class
comment: The anterior third of the tongue is usually free or is partially attached to the floor of the mouth by the lingual frenulum. There is a spectrum ranging from fusion of the tongue to the floor of the mouth ("ankyloglossia inferiorum") to a lingual frenulum that is short or anchored toward the tip of the tongue ("tongue tie"). Ankyloglossia may be associated with a mild indentation of the tip of the tongue, which should not be coded as a Bifid tongue.
subclass of: PhenotypicFeature
equivalent class: HP_0010296

Nasolabial Fold, Underdeveloped
IAO_0000115: Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure).
category: PhenotypicFeature
has exact synonym: Nasolabial Crease, Underdeveloped
has related synonym: Nasolabial Crease, Hypoplastic
has related synonym: Nasolabial Fold, Hypoplastic
type: Class
comment: See Allanson et al. [2009b].
subclass of: PhenotypicFeature
equivalent class: HP_0010801

Toe, Partial Absence of
IAO_0000115: The absence of a phalangeal segment of a toe or hallux.
category: PhenotypicFeature
has related synonym: Hypophalangy
type: Class
comment: The part that is absent may be specified. The distal modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The proximal modifier specifies the loss of the proximal or middle phalanx with the nail still present. It may be difficult to know which phalanx is absent without X-rays and even then, the missing bone may not be identified (note no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective should be removed. Note that this finding is distinct from Short toes, (which are reduced in length but have the normal number of phalangeal segments). Partial absence of the hallux is an alternative term that may be used for the first toe.
subclass of: PhenotypicFeature
equivalent class: HP_0011305

Sole, Convex Contour of
IAO_0000115: The contour of the foot in lateral profile has a convex shape.
category: PhenotypicFeature
type: Class
comment: This term was established as the convex contour may occur without the prominent heel, which together comprise the bundled term Rocker bottom foot.
subclass of: PhenotypicFeature
equivalent class: HP_0011303

Thenar Eminence, Small
IAO_0000115: Reduced palmar soft tissue mass surrounding the base of the thumb.
category: PhenotypicFeature
has related synonym: Thenar Hypoplasia
type: Class
comment: The reduced soft tissue is typically abductor pollicis brevis and flexor pollicis brevis muscle bulk. Detection of this abnormality entails clinical judgment, especially in mild cases. The bulk of the muscle mass around the base of the thumb is diminished, and there may be a mild concavity over the volar aspect of the first metacarpal. When the deficiency is unilateral, comparison between the two hands will point up the often-subtle change in contour of the thenar muscles. If the degree of involvement is severe, the palm may taper in width proximally.
subclass of: PhenotypicFeature
equivalent class: HP_0001245

Tongue, Large
IAO_0000115: Increased length and width of the tongue.
category: PhenotypicFeature
has exact synonym: Hyperplasia of the Tongue
has exact synonym: Hypertrophy of the Tongue
has exact synonym: Macroglossia
type: Class
comment: Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue.
subclass of: PhenotypicFeature
equivalent class: HP_0000158

Chin, Tall
IAO_0000115: Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.
category: PhenotypicFeature
has exact synonym: Chin, Long
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0400000

Chin, H-Shaped Crease
IAO_0000115: H-shaped crease in the fat pad of the chin.
category: PhenotypicFeature
has exact synonym: Chin, H-shaped Groove
type: Class
comment: The H-shape must be distinguished from Vertical crease of the chin.
subclass of: PhenotypicFeature
equivalent class: HP_0011824

Perioral Hyperpigmentation
IAO_0000115: Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.
category: PhenotypicFeature
type: Class
comment: Periorbital hyperpigmentation may be accompanied by Lip freckles, but this should be assessed separately.
subclass of: PhenotypicFeature
equivalent class: HP_0010802

Antitragus, Prominent
IAO_0000115: Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.
category: PhenotypicFeature
has exact synonym: Antitragus, Enlarged
has related synonym: Antitragus, Hyperplastic
has related synonym: Antitragus, Hypertrophic
type: Class
comment: This finding is highly variable, and the range is illustrated in the figure to the right and the figures from Antitragus, Absent.
subclass of: PhenotypicFeature
equivalent class: HP_0008593

Tongue, Furrowed
IAO_0000115: Accentuation of the grooves on the dorsal surface of the tongue.
category: PhenotypicFeature
has exact synonym: Prominent Tongue Grooves
has related synonym: Scrotal Tongue (pejorative)
type: Class
comment: Usually there is a midline groove with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children.
subclass of: PhenotypicFeature
equivalent class: HP_0000221

Vermilion, Upper Lip, Everted
IAO_0000115: Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view.
category: PhenotypicFeature
type: Class
comment: In frontal view, with the face relaxed, the apparent height of the upper lip vermilion is excessive and the upper incisors may be visible. On profile view, the vermilion is more convex than usual. An everted upper lip may be associated with a short philtrum, and may be secondary to protruded upper teeth, but these should be assessed and described separately.
subclass of: PhenotypicFeature
equivalent class: HP_0010803

Toe, Short
IAO_0000115: Digits that appear disproportionately short compared to the foot.
category: PhenotypicFeature
has exact synonym: Brachydactyly of the Foot
type: Class
comment: This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification (see Short fingers).
subclass of: PhenotypicFeature
equivalent class: HP_0001831

Blepharochalasis
IAO_0000115: Lax, wrinkled, and baggy eyelid skin.
category: PhenotypicFeature
type: Class
comment: This finding is usually more apparent in the upper eyelid. The eyelid tissue thickness is usually also reduced. The feature is frequent in older persons [Held and Schneiderman, [1990]].
subclass of: PhenotypicFeature
equivalent class: HP_0010749

Dental Crowding
IAO_0000115: Overlapping teeth within an alveolar ridge.
category: PhenotypicFeature
type: Class
comment: This is a bundled term. There is a discrepancy in the size or number of the teeth compared to the size of the alveolar ridges.
subclass of: PhenotypicFeature
equivalent class: HP_0000678

Hand, Absent
IAO_0000115: The total absence of the hand, with no bony elements distal to the radius or ulna.
category: PhenotypicFeature
has exact synonym: Acheiria
type: Class
comment: See Hand, partial absence for a related term.
subclass of: PhenotypicFeature
equivalent class: HP_0004050

Ankyloblepharon
IAO_0000115: Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.
category: PhenotypicFeature
has exact synonym: Ankyloblepharon Filiforme Adnatum
has exact synonym: Eyelid Synechiae
type: Class
comment: This term derives from Weiss et al. [1992]. A minimally expressed form, especially when located fully laterally, may be more difficult to ascertain and would be a subjective feature. A band may break and leave no evidence of its presence. Note that this term is distinct from Cryptophthalmos.
subclass of: PhenotypicFeature
equivalent class: HP_0009755

Sydney Crease
IAO_0000115: Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.
category: PhenotypicFeature
type: Class
comment: The proximal transverse (five finger) crease starts on the radial side of the hand near the base of the index finger and extends toward the ulnar side of the palm, but does not reach the ulnar side. In this finding, the crease extends completely to the ulnar margin of the palm.
subclass of: PhenotypicFeature
equivalent class: HP_0011311

Columella, Short
IAO_0000115: Reduced distance from the anterior border of the naris to the subnasale.
category: PhenotypicFeature
type: Class
comment: This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis.
subclass of: PhenotypicFeature
equivalent class: HP_0002000

Face, Broad
IAO_0000115: Bizygomatic (upper face) and bigonial (lower face) width greater than 2 SD above the mean. An apparent increase in the width of the face.
category: PhenotypicFeature
type: Class
comment: Objective measurement of upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until maximum width is determined. Objective measurement of the lower face is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible [Farkas, [1981]]. Broad face is distinct from Round face.
subclass of: PhenotypicFeature
equivalent class: HP_0000283

Eyelashes, Absent
IAO_0000115: No eyelashes are present.
category: PhenotypicFeature
has exact synonym: Atrichia of Eyelashes
type: Class
comment: This term is based on Ahmad et al. [1998]. Often this finding is congenital and associated with alopecia universalis, but this should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0000561

Oral Synechia
IAO_0000115: Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.
category: PhenotypicFeature
type: Class
comment: These bands must be distinguished from synechiae between the tongue and palate (glossopalatal ankylosis) and from synechiae arising from the floor of the mouth (as in the subglossopalatal membrane), oropharyngeal isthmus (as in persistent buccopharyngeal membrane) or from the lower lip [Gorlin et al., [2001]]. If there is a complete soft tissue contiguity between the upper and lower alveolar ridges, the term, Fibrous syngnathia should be used instead.
subclass of: PhenotypicFeature
equivalent class: HP_0010285

Antihelix, Stem, Serpiginous
IAO_0000115: Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0011241

Ear, Crumpled
IAO_0000115: Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.
category: PhenotypicFeature
type: Class
comment: This is distinct from Stahl ear and Shell ear, with which the term has sometimes been conflated. The appearance often changes markedly after birth.
subclass of: PhenotypicFeature
equivalent class: HP_0009901

Thumb, Partial Absence of
IAO_0000115: The absence of a phalangeal segment of a thumb.
category: PhenotypicFeature
has related synonym: Hypophalangy
type: Class
comment: The part that is absent may be specified. The distal modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The proximal modifier specifies the loss of the proximal phalanx. This finding is distinct from Short thumb.
subclass of: PhenotypicFeature
equivalent class: HP_0009659

Pes Planus
IAO_0000115: A foot where the arch is in contact with the ground or floor when the individual is standing OR In a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing. The height of the arch is reduced.
category: PhenotypicFeature
has related synonym: Dropped Arches
has related synonym: Fallen Arches
type: Class
comment: The second definition was conceived by this working group based on a common-sense analysis of how one could generalize the first definition to a non-ambulatory individual. There are no data on this assessment and we invite feedback on its utility.
subclass of: PhenotypicFeature
equivalent class: HP_0001763

Digital Constriction Ring
IAO_0000115: A narrow segment of significantly reduced circumference of a digit.
category: PhenotypicFeature
has related synonym: Amniotic Bands
type: Class
comment: The description should specify the hand and digit that is affected and the approximate location of the band relative to the phalanges. It may be described as partial, if it does not involve the entire circumference of the digit.
subclass of: PhenotypicFeature
equivalent class: HP_0010491

Helix, Crus, Prominent
IAO_0000115: Development of the crus helix to the same degree as an average antihelix stem or helix.
category: PhenotypicFeature
has related synonym: Hyperplastic Crus Helix
has related synonym: Hypertrophic Crus Helix
type: Class
comment: This finding is highly variable, and the range is illustrated in the figure to the right. Judgment of prominence is highly subjective and may be influenced by the relative development of the other ear components. There appears to be a correlation between the length of the crus helix and its relative prominence, but these should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0009899

Hypothenar Eminence, Small
IAO_0000115: Reduced muscle mass on the ulnar side of the palm.
category: PhenotypicFeature
type: Class
comment: The reduced soft tissue is typically abductor digiti minimi and flexor digiti minimi brevis. This may be even more difficult to discern than is Small thenar eminence, but the same considerations outlined in that definition apply.
subclass of: PhenotypicFeature
equivalent class: HP_0010487

Nail, Ridged
IAO_0000115: Longitudinal, linear prominences in the nail plate.
category: PhenotypicFeature
type: Class
comment: There may be only one, or several ridges. The affected digits should be specified.
subclass of: PhenotypicFeature
equivalent class: HP_0001807

Frontal Bossing
IAO_0000115: Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
category: PhenotypicFeature
has related synonym: Forehead, Bulging
type: Class
comment: This is not the same as Prominent forehead
subclass of: PhenotypicFeature
equivalent class: HP_0002007

Foot, Postaxial Polydactyly of
IAO_0000115: Presence of a supernumerary digit that is not a hallux.
category: PhenotypicFeature
has exact synonym: Posterior Polydactyly
has related synonym: Fibular Polydactyly
has related synonym: Posterior Duplication of the Limb/Foot
type: Class
comment: Although it is appealing to believe in many cases that the supernumerary (non-hallux) digit is the most fibular, there may be no evidence for this. When the digit is de minimus, this seems reasonable by parsimony. When it is fully formed, associated with a supernumerary metatarsal, and fully functional, it may be impossible to determine which toe is supernumerary. Nevertheless, the designation as postaxial is reasonable given the tradition of this designation. Postaxial polydactyly has been divided into two types: A (a fully formed digit) and B (digitus minimus, or a pedunculated, non-articulating, non-functional appendage). We recognize these subtypes but note that post-axial polydactyly actually represents a spectrum from type A to type B. When the type is indeterminate, no subtype is specified. The term uses the word postaxial instead of the embryologic posterior because the former is established in clinical medicine.
subclass of: PhenotypicFeature
equivalent class: HP_0100259

Philtral Ridges, Malaligned
IAO_0000115: Absence of the usual parallel position of philtral ridges.
category: PhenotypicFeature
type: Class
comment: Hajnis [1972] has described downwards convergent, downwards divergent (trapezoid or triangular), convex (ovoid), and concave philtral configurations. Any of these findings may be coded using the single term "malaligned philtral ridges."
subclass of: PhenotypicFeature
equivalent class: HP_0011827

Vermilion, Upper Lip, Thin
IAO_0000115: Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. apparently reduced height of the vermilion of the upper lip in the frontal view.
category: PhenotypicFeature
has related synonym: Thin Upper Lip
has related synonym: Thin Vermilion Border
type: Class
comment: Normal values for the height of the vermilion are available [Farkas, [1981]], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, [2000]] (see Fig. 2 from Vermilion, Upper Lip, Thick). The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression (see Anatomy Section). On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately.
subclass of: PhenotypicFeature
equivalent class: HP_0000219

Metacarpal, Short
IAO_0000115: Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
category: PhenotypicFeature
type: Class
comment: Short metacarpals can involve any of the metacarpal bones, and the affected ray should be specified. The assessment of isolated short metacarpal can be made by viewing the dorsum of the hand when clenched. Note that if metacarpals F2-5 are affected, the correct term is Short palm. The affected digits should be specified.
subclass of: PhenotypicFeature
equivalent class: HP_0010049

Mouth, Wide
IAO_0000115: Distance between the oral commissures more than 2 SD above the mean. apparently increased width of the oral aperture.
category: PhenotypicFeature
has related synonym: Large Mouth
has related synonym: Large Oral Aperture
has related synonym: Macrostomia
type: Class
comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft.
subclass of: PhenotypicFeature
equivalent class: HP_0000154

Face, Expressionless
category: PhenotypicFeature
type: Class
comment: This term, which is synonymous with dull expression or hypomimic face, is not defined here as it describes a functional not a structural feature (reduced facial movement leads to reduced crease formation).
subclass of: PhenotypicFeature
equivalent class: HP_0000298

Nasal Bridge, Prominent
IAO_0000115: Anterior positioning of the nasal root in comparison to the usual positioning for age.
category: PhenotypicFeature
has exact synonym: Nasal Bridge, High
type: Class
comment: A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism [Hall et al., [2009]]. If such findings are present these should be coded separately. Deep-set eyes [Hall et al., [2009]] may lead to the impression of a prominent nasal bridge, but this finding should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0000426

Nail Pits
IAO_0000115: Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.
category: PhenotypicFeature
type: Class
comment: The affected digits should be specified.
subclass of: PhenotypicFeature
equivalent class: HP_0001803

Antihelix, Superior Crus, Prominent
IAO_0000115: Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem (Fig. d,e).
category: PhenotypicFeature
has related synonym: Superior Crus of Antihelix, Hyperplastic
has related synonym: Superior Crus of Antihelix, Hypertrophic
type: Class
comment: This finding is highly variable, and the range is illustrated in the figure to the right. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0011247

Nasal Tip, Narrow
IAO_0000115: Decrease in width of the nasal tip.
category: PhenotypicFeature
has related synonym: Nasal Tip, Pinched
type: Class
comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available.
subclass of: PhenotypicFeature
equivalent class: HP_0011832

Face, Round
IAO_0000115: Facial appearance is more circular than usual, as viewed from the front.
category: PhenotypicFeature
type: Class
comment: While a Broad face may have rounded cheeks, a Round face appears to be as long as it is broad.
subclass of: PhenotypicFeature
equivalent class: HP_0000311

Finger, Ulnar Deviation of
IAO_0000115: Angulation of the digit towards the posterior or postaxial axis (ulnar) of the limb.
category: PhenotypicFeature
type: Class
comment: The deviation is at the MCPJ. The affected digits should be specified. This finding is independent of Clinodactyly.
subclass of: PhenotypicFeature
equivalent class: HP_0009465

Cheeks, Sunken
IAO_0000115: Lack or loss of the soft tissues between the zygomata and mandible.
category: PhenotypicFeature
type: Class
comment: This appearance is found more often in edentulous patients.
subclass of: PhenotypicFeature
equivalent class: HP_0009938

Cupid's Bow, Exaggerated
IAO_0000115: More pronounced paramedian peaks and median notch of the Cupid's bow.
category: PhenotypicFeature
has exact synonym: Cupid's Bow, Accentuated
has related synonym: Cupid's Bow (used without adjective)
type: Class
comment: This may be associated with a Deep philtrum, [Hennekam et al., [2009]] but that finding should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0002263

Antihelix, Angulated
IAO_0000115: Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0011236

Antihelix, Inferior Crus, Prominent
IAO_0000115: Increased protrusion of the inferior crus relative to the prominence of the antihelix stem.
category: PhenotypicFeature
has related synonym: Inferior Crus of Antihelix, Hyperplastic
has related synonym: Inferior Crus of Antihelix, Hypertrophic
type: Class
comment: This finding is highly variable, and the range is illustrated in the figure to the right.
subclass of: PhenotypicFeature
equivalent class: HP_0011238

Face, Hypotonic
category: PhenotypicFeature
type: Class
comment: This term is to be deleted as it is a functional, not anatomic, descriptor. Also, it is not a unitary objective finding and instead represents a conclusion based on a number of features that are defined elsewhere. These include reduced nasolabial folds, laxity and drooping of lateral supraorbital skin and ptosis, mouth held open and reduced facial expression.
subclass of: PhenotypicFeature
equivalent class: HP_0000297

Nose, Narrow
IAO_0000115: Interalar distance more than 2 SD below the mean for age. Apparently decreased width of the nasal base and alae.
category: PhenotypicFeature
type: Class
comment: The nasal width is defined as the distance between the most lateral aspects of alae nasi. A narrow nose is often, but not necessarily, accompanied by a Narrow nasal base. It may also be accompanied by decreased thickness of the alae, narrow nares, or a narrow columella. The term narrow nose is also used by many to denote decreases in not only the interalar distance but also the nasal tip, ridge and bridge. As such it is a bundled term. We do not favor this more general use of the term and instead recommend describing the individual components.
subclass of: PhenotypicFeature
equivalent class: HP_0000460

Shell Ear
IAO_0000115: Absence of the superior antihelical crus, and broadening of the inferior antihelical crus, which runs more horizontally with a sharper "take-off" from the helix than usual.
category: PhenotypicFeature
type: Class
comment: This is a bundled term, consisting of absence of the superior antihelical crus, broad inferior antihelical crus and abnormal orientation of the antihelix. As the term is much used in practice it is kept. In addition, the helix may show variable abnormalities of folding. The crus helix may be more protruding and extend further across the concha than usual.
subclass of: PhenotypicFeature
equivalent class: HP_0008569

Foot, Narrow
IAO_0000115: A foot for which the measured width is below the 5th centile for age. A foot that appears disproportionately narrow for its length.
category: PhenotypicFeature
type: Class
comment: The normative data [Hall et al., [2007]] only include 4-16 year olds. Since the foot width is still increasing at the 16 year old age point on the graphs, extrapolation is not recommended. Therefore, persons more than 16 years or less than 4 years of age can only be assessed subjectively (until appropriate norms are identified or generated). Foot width should be measured from the medial aspect of the first MTPJ to the lateral aspect of the fifth MTPJ [Hall et al., [2007]]. It does not seem sensible to apply this term to individuals with polydactyly that includes a duplicated metatarsal.
subclass of: PhenotypicFeature
equivalent class: HP_0001786

Jaw, Broad
IAO_0000115: Bigonial distance (lower facial width) more than 2 SD above the mean. Apparently increased width of the lower jaw (mandible) when viewed from the front.
category: PhenotypicFeature
has exact synonym: Jaw, Wide
has exact synonym: Lower Face, Broad
has exact synonym: Lower Face, Wide
has exact synonym: Mandible, Broad
has exact synonym: Mandible, Wide
type: Class
comment: The lower jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards [Farkas, [1981]]. When a broad jaw is accompanied by a broad upper face the term Square face is used.
subclass of: PhenotypicFeature
equivalent class: HP_0012802

Lop Ear
IAO_0000115: Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.
category: PhenotypicFeature
type: Class
comment: Mild forms are limited to the superior ear, more severe forms affect the superior and posterior ear. The concha may be excessively concave. This should be distinguished from an Overfolded helix where the external contour of the ear is normal.
subclass of: PhenotypicFeature
equivalent class: HP_0000394

Nail, Hyperconvex
IAO_0000115: When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.
category: PhenotypicFeature
type: Class
comment: No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. The affected digits should be specified.
subclass of: PhenotypicFeature
equivalent class: HP_0001795

Eyelashes, Long
IAO_0000115: Mid upper eyelash length >10 mm. Increased length of the eyelashes.
category: PhenotypicFeature
has exact synonym: Ciliary Trichomegaly
type: Class
comment: Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 ? 1.05 mm in boys and 7.76 ? 1.03 mm in girls [Pucci et al., [2005]].
subclass of: PhenotypicFeature
equivalent class: HP_0000527

Widow's Peak
IAO_0000115: Frontal hairline with bilateral arcs to a low point in the midline of the forehead.
category: PhenotypicFeature
type: Class
comment: The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline.
subclass of: PhenotypicFeature
equivalent class: HP_0000349

Turricephaly
IAO_0000115: Tall head relative to width and length.
category: PhenotypicFeature
type: Class
comment: This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape.
subclass of: PhenotypicFeature
equivalent class: HP_0000262

Antihelix, Absent
IAO_0000115: No discernible ridge between concha and triangular fossa, and helix.
category: PhenotypicFeature
type: Class
comment: This finding is common in a Protruding and Cupped ear, where the superior and inferior parts of the antihelix are often absent. This is distinct from partial absence of the antihelix as may occur in, for example, Underdeveloped inferior crus of the antihelix.
subclass of: PhenotypicFeature
equivalent class: HP_0011234

Eyebrow, Broad
IAO_0000115: Regional increase in width of the eyebrow.
category: PhenotypicFeature
has exact synonym: Flared Eyebrow
type: Class
comment: Broadening or flaring can be medial or lateral, and the term may be modified by appending one of these words to the term. Flaring is used to describe a widening with a change in direction of the hairs constituting the eyebrow, but these terms are considered synonymous here.
subclass of: PhenotypicFeature
equivalent class: HP_0011229

Naris, Supernumerary
IAO_0000115: More than two nares.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0009934

Antihelix, Stem, Prominent
IAO_0000115: Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix (Fig. d,e).
category: PhenotypicFeature
has related synonym: Antihelix Stem, Hyperplastic
has related synonym: Antihelix Stem, Hypertrophic
type: Class
comment: This finding is highly variable, and the range is illustrated in the figure to the right. The relative prominence is attributable to either increased volume of the cartilage and/or the acuteness of the folding angle. Interpretation of relative antihelical prominence may be difficult when the conchal anatomy is distorted, for example a Cupped ear.
subclass of: PhenotypicFeature
equivalent class: HP_0011240

Gingival Overgrowth
IAO_0000115: Thickening of the soft tissue overlying the alveolar ridge.
category: PhenotypicFeature
has related synonym: Gingival Hyperplasia
has related synonym: Gingival Hypertrophy
type: Class
comment: The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
subclass of: PhenotypicFeature
equivalent class: HP_0000212

Macrodactyly
IAO_0000115: Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.
category: PhenotypicFeature
has related synonym: Megalodactyly
has related synonym: Pachydactyly
type: Class
comment: There are no recognized standards for the girth of digits and this finding can vary substantially in the population. This assessment relies on the judgment of the examiner to recognize when the difference between the expected and the observed is significant. The affected digits should be specified. The definition does not mandate the component of the increased size (bone, connective tissue, etc.), but should exclude edema. The requirement that the girth is most, or all, of the digit is intended to distinguish this from broad fingertips. This should be distinguished from Broad fingers or Broad fingertips as the girth is circumferential in macrodactyly, which is not the case for broad fingers or broad fingertips, which are increased only (or predominantly) in their lateral (A/P) width.
subclass of: PhenotypicFeature
equivalent class: HP_0004099

Macrodontia
IAO_0000115: Mesiodistal tooth diameter (width) more than 2 SD above mean for age. apparently increased maximum width of the tooth.
category: PhenotypicFeature
type: Class
comment: The standard reference has means and standard deviations by gender [Moyers et al., [1976]].
subclass of: PhenotypicFeature
equivalent class: HP_0001572

Brachycephaly
IAO_0000115: Cephalic index greater than 81%. Apparently shortened anteroposterior dimension (length) of the head compared to width.
category: PhenotypicFeature
type: Class
comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0000248

Chin Dimple
IAO_0000115: A persistent midline depression of the skin over the fat pad of the chin.
category: PhenotypicFeature
type: Class
comment: The borders of the depression are round.
subclass of: PhenotypicFeature
equivalent class: HP_0010751

Macrotia
IAO_0000115: Median longitudinal ear length greater than 2 SD above the mean and median ear width greater than 2 SD above the mean. Apparently increase in length and width of the pinna.
category: PhenotypicFeature
type: Class
comment: This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. Normal values are available from birth to 16 years of age [Feingold and Bossert, [1974]; Hall et al., [2007]] and birth to 18 years of age [Farkas, [1981]] specific for sex. If only length is increased the term Long ear should be used. Normal values for ear width are available [Farkas, [1981]].
subclass of: PhenotypicFeature
equivalent class: HP_0000400

Finger, Tapered
IAO_0000115: The gradual reduction in girth of the digit from proximal to distal.
category: PhenotypicFeature
type: Class
comment: If the digits are not uniformly affected, the affected fingers should be specified. If not specified, it refers to all the digits of the hand.
subclass of: PhenotypicFeature
equivalent class: HP_0001182

Infra-Orbital Fold
IAO_0000115: Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge.
category: PhenotypicFeature
type: Class
comment: This excludes Epicanthus inversus. See Infra-orbital crease for a related term.
subclass of: PhenotypicFeature
equivalent class: HP_0011232

Toe, Tapered
IAO_0000115: The gradual reduction in girth of the digit from proximal to distal.
category: PhenotypicFeature
type: Class
comment: If the digits are not uniformly affected, they should be specified. If not specified, it refers to all the digits of the foot.
subclass of: PhenotypicFeature
equivalent class: HP_0011309

Occiput, Prominent
IAO_0000115: Increased convexity of the occiput (posterior part of the skull).
category: PhenotypicFeature
type: Class
comment: Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0000269

Lobe, Cleft
IAO_0000115: Discontinuity in the convexity of the inferior margin of the lobe.
category: PhenotypicFeature
has exact synonym: Bifid Lobe
has exact synonym: Notched Lobe
type: Class
comment: The earlobe does not have a dependent portion.
subclass of: PhenotypicFeature
equivalent class: HP_0011265

Tragus, Bifid
IAO_0000115: Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak.
category: PhenotypicFeature
has exact synonym: Tragus, Notched
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0011269

Digit Pad, Prominent
IAO_0000115: A soft tissue prominence of the ventral aspects of the fingertips or toe tips.
category: PhenotypicFeature
has exact synonym: Fetal Finger/Toe Tip Pads
has related synonym: Persistent Fetal Pads
type: Class
comment: The prominence of the finger or toe pads varies throughout life, being greater in neonates and dependent on the state of hydration. This term should not be used if the digit has clubbing. Note that the synonym "fetal fingertip pads "should not be interpreted to mean that the prominent pad necessarily was present in this individual since fetal life. We do not endorse the use of the term "Persistent fetal pads" as this term implies knowledge of the natural history of this finding, which may or may not be known.
subclass of: PhenotypicFeature
equivalent class: HP_0011298

Mandible, Cleft
IAO_0000115: Midline deficiency of the mandible and some or all overlying tissues.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0010752

Antihelix, Inferior Crus, Underdeveloped
IAO_0000115: Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem.
category: PhenotypicFeature
has related synonym: Inferior Crus of Antihelix, Hypoplastic
has related synonym: Inferior Crus of Antihelix, Hypotrophic
type: Class
comment: This finding is highly variable.
subclass of: PhenotypicFeature
equivalent class: HP_0011239

Ala Nasi, Underdeveloped
IAO_0000115: Thinned, deficient, or excessively arched ala.
category: PhenotypicFeature
has related synonym: Ala Nasi, Hypoplastic
type: Class
comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted.
subclass of: PhenotypicFeature
equivalent class: HP_0000430

Tooth, Natal
IAO_0000115: Erupted tooth or teeth at birth.
category: PhenotypicFeature
type: Class
comment: This is not to be confused with apical dental cysts. Natal teeth most often involve lower central incisors, less often upper central incisors, and rarely first primary molars. Natal teeth occur about once in 3,000 births and are particularly common among some native (First Nation) groups of North America [Mok and Suina, [1986]].
subclass of: PhenotypicFeature
equivalent class: HP_0000695

Helix, Crus, Underdeveloped
IAO_0000115: Flatter and/or shorter crus helix than average (Fig. a).
category: PhenotypicFeature
has related synonym: Hypoplastic Crus Helix
has related synonym: Hypotrophy Crus Helix
type: Class
comment: This finding is highly variable, and the range is illustrated in the figure to the right. There appears to be a correlation between the length of the crus helix and its relative prominence.
subclass of: PhenotypicFeature
equivalent class: HP_0009898

Nasal Tip, Deviated
IAO_0000115: Nasal tip positioned to one side of the midline.
category: PhenotypicFeature
type: Class
comment: There is no specific minimal angle before the tip can be determined to be deviated. The assessment of a mild degree of deviation is highly dependant on the experience of the observer. A deviated nasal septum can accompany a deviated nasal tip.
subclass of: PhenotypicFeature
equivalent class: HP_0011831

Eyelashes, Sparse
IAO_0000115: Decreased density/number of eyelashes.
category: PhenotypicFeature
has exact synonym: Hypotrichosis of Eyelashes
type: Class
comment: Sometimes Sparse eyelashes are abnormally formed eyelashes. The sparseness may be limited to one portion of the eyelid. We know of no normative data for Sparse eyelashes.
subclass of: PhenotypicFeature
equivalent class: HP_0000653

Hair Whorl, Abnormal Number
IAO_0000115: More than two clockwise hair whorls.
category: PhenotypicFeature
type: Class
comment: Most individuals have one clockwise hair whorl at a single point on the scalp lateral to the midline but close to the vertex of the skull. Five percent of the population has two whorls. A double hair whorl is sometimes referred to as a double crown. In 10%, whorl direction is counter-clockwise.
subclass of: PhenotypicFeature
equivalent class: HP_0010813

Frontal Balding
IAO_0000115: Absence of hair in the anterior midline and/or parietal areas.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0002292

Helix, Crus, Expanded Terminal Portion
IAO_0000115: Widening, rather than tapering, of the crus at its posterior border near the antihelix.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0011259

Fingers, Cutaneous Syndactyly of
IAO_0000115: A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the PIPJ. A soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.
category: PhenotypicFeature
has related synonym: Syndactyly (without adjective)
has related synonym: Zygodactyly
type: Class
comment: We have set an arguably arbitrary threshold to distinguish the objective from the subjective finding. While severe degrees of cutaneous syndactyly are clearly objective, more subtle degrees are subjective. We set this threshold to distinguish these two situations. The digits (or parts of) are joined together by tissue that is not normally present between the digits at that point in the P/D axis. A modifier of "complete" may be used if the cutaneous syndactyly extends to the distal end of the nail bed of the digits. The affected digits should be specified. Note that the unqualified term "syndactyly" is no longer allowed as it is unclear whether this refers to bony or cutaneous syndactyly.
subclass of: PhenotypicFeature
equivalent class: HP_0012725

Neck, Short
IAO_0000115: Decreased distance from the point where neck and shoulders meet to the inferior margin of the occipital bone.
category: PhenotypicFeature
type: Class
comment: No objective measure is available.
subclass of: PhenotypicFeature
equivalent class: HP_0000470

Nose, Absent
IAO_0000115: Complete absence of all nasal structures.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0009927

Finger, Broad
IAO_0000115: Increased width of a non-thumb digit of the hand.
category: PhenotypicFeature
has exact synonym: Wide Fingers
has related synonym: Pachydactyly
has related synonym: Thick Fingers
type: Class
comment: Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify "Broad fingers, F1-5" instead of separately specifying "Broad thumb" and "Broad fingers F2-5."
subclass of: PhenotypicFeature
equivalent class: HP_0001500

Supraorbital Ridges, Underdeveloped
IAO_0000115: Flatness of the supraorbital portion of the frontal bones.
category: PhenotypicFeature
has exact synonym: Brows, Underdeveloped
has exact synonym: Supraorbital Ridges, Flattened
has exact synonym: Supraorbital Ridges, Hypoplastic
has related synonym: Brows, Underdeveloped
has related synonym: Supraorbital Ridges, Hypoplastic
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0009891

Eyebrow, Laterally Extended
IAO_0000115: An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location.
category: PhenotypicFeature
type: Class
comment: The degree of extension beyond the orbital rim considered abnormal has not been established. This feature is also uncommon.
subclass of: PhenotypicFeature
equivalent class: HP_0011230

Columella, Low Insertion
IAO_0000115: Insertion of the posterior columella below the nasal base.
category: PhenotypicFeature
type: Class
comment: This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side.
subclass of: PhenotypicFeature
equivalent class: HP_0010764

Tragus, Duplicated
IAO_0000115: A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus (Fig. b).
category: PhenotypicFeature
has exact synonym: Accessory Tragus
type: Class
comment: It is unclear how often, or even whether, this feature which would represent a duplication of mandibular components, occurs. More common occurrences in this region would include preauricular tags and pretragial duplications of hyoid origin.
subclass of: PhenotypicFeature
equivalent class: HP_0011270

Hand, Split
IAO_0000115: Longitudinal deficiency of a digital ray of the hand except rays 1 or 5.
category: PhenotypicFeature
has exact synonym: Cleft Hand
has related synonym: Ectrodactyly
has related synonym: Lobster Claw Deformity
type: Class
comment: The threshold for this deficiency should be that all of the phalanges of a central ray (not F1 or F5) are absent and at least part of the associated metacarpal (if it is just the phalanges that are missing, this should be coded as Absent finger). The absence of a central ray or rays frequently yields a cleft appearance of the hand. This term is preferred to ectrodactyly of the hand as this has been used (more appropriately) for forms of phalangeal hypoplasia or amputation but it is acknowledged that this is a commonly used term. Lobster claw deformity is neither descriptive nor acceptable due to its pejorative nature. There is wide variation in the hands of affected individuals, but the common factor seems to be the absence of the central ray, justifying the use of Split hand as a clinical designation.
subclass of: PhenotypicFeature
equivalent class: HP_0001171

Prognathism
IAO_0000115: Anterior protrusion of the mandibular alveolar ridge beyond the vertical plane of the maxillary alveolar ridge, best appreciated in profile.
category: PhenotypicFeature
has exact synonym: Habsburg/Hapsburg Chin
has exact synonym: Habsburg/Hapsburg Jaw
has exact synonym: Prognathia
has related synonym: Habsburg Chin
has related synonym: Habsburg Jaw
has related synonym: Hapsburg Chin
has related synonym: Hapsburg Jaw
type: Class
comment: The examiner must use judgment to distinguish a protruding mandible from an Underdeveloped premaxilla or Retruded midface, either of which may be accompanied by class III malocclusion.
subclass of: PhenotypicFeature
equivalent class: HP_0000303

Question Mark Ear
IAO_0000115: Cleft between the helix and the lobe.
category: PhenotypicFeature
has exact synonym: Constricted Ear
has exact synonym: Cosman Ear
type: Class
comment: Relatively few cases have been reported [Priolo et al., [2000]]. Variation from a small notch to complete separation of the helix from the lobe is noted, there may be unilateral or bilateral involvement. The lobe is relatively laterally recessed compared to the upper portion of the ear and the scapha may be absent. This is distinct from a Cleft helix where the cleft is within the helix.
subclass of: PhenotypicFeature
equivalent class: HP_0030022

Toe, Absent
IAO_0000115: The absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.
category: PhenotypicFeature
has exact synonym: Oligodactyly
has related synonym: Hypodactyly
type: Class
comment: Note that this descriptor does not require absence of the metatarsal. The affected digits should be specified, although this may be difficult. In the latter case, the specified term should be Absent toe, right foot (with the identity of the missing toe not specified). This definition excludes Partial absence of the toe. This absent toe definition excludes Absent hallux because it is usually obvious if the missing digit is a hallux. It may be difficult to distinguish an absent toe from two digits with an extreme degree of osseous and cutaneous syndactyly. If all digits are missing, the term Adactyly should be used. The term Oligodactyly may be used as a synonym, but only in situations where the missing digit is not specified. For example, to state that a patient has Oligodactyly F5 is incorrect because the oligodactyly refers to the digits that are present and the F5 refers to the digit that is absent. This is awkward and could be confused with higher order deficiencies.
subclass of: PhenotypicFeature
equivalent class: HP_0010760

Nasal Ridge, Concave
IAO_0000115: Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.
category: PhenotypicFeature
has related synonym: Saddle Nose
has related synonym: Ski Jump Nose
type: Class
comment: Note the difference from Depressed nasal bridge.
subclass of: PhenotypicFeature
equivalent class: HP_0011120

Antihelix, Additional Crus
IAO_0000115: Supernumerary ridge or crus of the ear arising from the antihelix.
category: PhenotypicFeature
type: Class
comment: The supernumerary crus usually emanates posteriorly from the antihelix at, or just above, the point of its bifurcation, but may have a different origin. In the former case, the finding is termed Stahl ear [Yamada and Fukuda, [1980]].
subclass of: PhenotypicFeature
equivalent class: HP_0011235

Tongue, Protruding
IAO_0000115: Tongue extending beyond the alveolar ridges or teeth at rest.
category: PhenotypicFeature
type: Class
comment: Protruding tongue may or may not be associated with a Large tongue, and that finding should be assessed and coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0010808

Palm, Narrow
IAO_0000115: For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile. The width of the palm appears disproportionately narrow for its length.
category: PhenotypicFeature
has related synonym: Narrow Hand
type: Class
comment: Palm width is measured across the palm at the level of the MCPJ (radial aspect of the F2 MCPJ to the ulnar aspect of the F5 MCPJ). Norms are specified in Hall et al. [2007]. Caution is advised for the subjective assessment as the breadth may be in the normal range with disproportionately increased length, which appears narrow. This finding may be associated with elongated/slender limbs in general, but that finding does not bear on the coding of this feature. Proximal narrowing may indicate small thenar or hypothenar eminences. This term replaces narrow hands as that term may leave the impression that it includes the thumb, which it does not.
subclass of: PhenotypicFeature
equivalent class: HP_0004283

Helix, Underfolded
IAO_0000115: Underdevelopment of the helix that either affects the entire helix, or is localized.
category: PhenotypicFeature
has related synonym: Ear, Dog-bite
type: Class
comment: Helix folding is highly variable, and the range is illustrated in the Figures 2 and 3 from Helix, Cleft. To use this term, the affected area must be too long to be considered a Cleft helix. Underdevelopment of part of the helix can lead to the impression that the scaphal area is enlarged.
subclass of: PhenotypicFeature
equivalent class: HP_0008577

Nasal Ridge, Depressed
IAO_0000115: Posteriorly-placed nasal ridge.
category: PhenotypicFeature
has exact synonym: Nasal Ridge, Recessed
has exact synonym: Nasal Ridge, Retruded
has related synonym: Nose, Flat
type: Class
comment: The adjective "depressed" here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately.
subclass of: PhenotypicFeature
equivalent class: HP_0000457

Infra-Orbital Crease
IAO_0000115: Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.
category: PhenotypicFeature
type: Class
comment: This feature is often found in the presence of hypoplasia of the malar process of the maxilla or zygoma, but this should be described separately. See Infra-orbital fold for a related term.
subclass of: PhenotypicFeature
equivalent class: HP_0100876

Ear, Posterior Angulation, Increased
IAO_0000115: Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than 2 SD above the mean for age.
category: PhenotypicFeature
has exact synonym: Ear, Posteriorly Rotated
type: Class
comment: Normal values are available [Farkas, [1981]; Hall et al., [2007]]. The mean angle is near 20? used the Frankfurt plane is compromised if the ear is also low-set. Subjective assessment of ear rotation is unacceptable because it is unreliable and often confounded by changes in head position. Abnormalities of ear shape may make it difficult to reliably determine the medial longitudinal axis of the ear. In such cases, it is probably unwise to make an assessment of the rotational status of the ear.
subclass of: PhenotypicFeature
equivalent class: HP_0000358

Metopic Depression
IAO_0000115: Linear vertical groove in the midline of the forehead, extending from hairline to glabella.
category: PhenotypicFeature
type: Class
comment: There is no underlying bony defect (metopism).
subclass of: PhenotypicFeature
equivalent class: HP_0011223

Nares, Anteverted
IAO_0000115: Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject.
category: PhenotypicFeature
has exact synonym: Nasal Tip, Upturned
has related synonym: Pug Nose
type: Class
comment: The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed.
subclass of: PhenotypicFeature
equivalent class: HP_0000463

Vermilion, Upper Lip, Tented
IAO_0000115: Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.
category: PhenotypicFeature
has related synonym: Tented Mouth
type: Class
comment: This finding is distinguished from an Exaggerated Cupid's bow by the alteration of the shape of the oral aperture.
subclass of: PhenotypicFeature
equivalent class: HP_0010804

Epicanthus Inversus
IAO_0000115: A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.
category: PhenotypicFeature
type: Class
comment: For additional information on this finding, see [Oley and Baraitser, [1988]].
subclass of: PhenotypicFeature
equivalent class: HP_0000537

Hair, Frontal Upsweep
IAO_0000115: Upward and/or sideward growth of anterior hair.
category: PhenotypicFeature
has exact synonym: Cowlick
has related synonym: Cowlick, which may be considered pejorative.
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0002236

Nose, Short
IAO_0000115: Distance from nasion to subnasale more than two standard deviations below the mean. Apparently decreased length from the nasal root to the nasal tip.
category: PhenotypicFeature
has related synonym: Nose, Small (a small nose both has a decreased height and a decreased width)
type: Class
comment: Normal values for length are available [Zankl et al., [2002]; Hall et al., [2007]]. The length of the nose usually shows a relation with the length of the philtrum. The nose and philtrum together occupy the central face zone; a change of length of one will usually be accompanied by a compensatory, opposite change in the length of the other. The nasion may be difficult to determine, in which case only the subjective assessment can be made. Sometimes a nose is well within normal limits in length when measured (objectively) but still appears small (subjectively) due to a large (mid)facial length. The infant's nose usually appears shorter in relation to facial length than does that of the adult. The nose continues to grow throughout life, contributing in adulthood to increases in length of the nasal ridge but not necessarily of the nasal length. There are no normal adult standards to determine this.
subclass of: PhenotypicFeature
equivalent class: HP_0003196

Palate, Hard, Short
IAO_0000115: Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean. apparently decreased length of the hard palate.
category: PhenotypicFeature
has related synonym: Hypoplastic Palate
has related synonym: Short Palate
type: Class
comment: Objective measurement of the hard palate requires special instrumentation [Hall et al., [2006]]. A short hard palate may be associated with velopharyngeal incompetence.
subclass of: PhenotypicFeature
equivalent class: HP_0010290

Mouth, Narrow
IAO_0000115: Distance between the commissures more than 2 SD below the mean. apparently decreased width of the oral aperture.
category: PhenotypicFeature
has related synonym: Microstomia
has related synonym: Small Mouth
has related synonym: Small Oral Aperture
type: Class
comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width.
subclass of: PhenotypicFeature
equivalent class: HP_0000160

Glossoptosis
IAO_0000115: Posterior displacement of the tongue into the pharynx.
category: PhenotypicFeature
type: Class
comment: Presumably, use of the suffix "ptosis" refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates "falling" of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway.
subclass of: PhenotypicFeature
equivalent class: HP_0000162

Helix, Squared Superior Portion
IAO_0000115: Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.
category: PhenotypicFeature
type: Class
comment: This is not to be confused with Lop ear or Satyr ear and may represent an underdevelopment of the upper third of the pinna. This is usually associated with a short ascending helix.
subclass of: PhenotypicFeature
equivalent class: HP_0030026

Palmar Crease, Single Transverse
IAO_0000115: The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
category: PhenotypicFeature
has related synonym: Simian Crease
type: Class
comment: The term five finger crease for the proximal transverse crease is sourced from [Hall et al., [2007]]. The subtypes of single transverse palmar crease are not recognized here [Hook et al., [1974]]. Replaces the term Simian crease as that term is disparaging and less descriptive.
subclass of: PhenotypicFeature
equivalent class: HP_0000954

Palatine Ridges, Prominent
IAO_0000115: Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.
category: PhenotypicFeature
has exact synonym: Prominent Lateral Palatal Ridges
has exact synonym: Prominent Palatine Folds
type: Class
comment: Soft tissue folds are typically present on the lateral sides of the palate, especially anteriorly.
subclass of: PhenotypicFeature
equivalent class: HP_0010291

Eyelid, Cleft
IAO_0000115: A short discontinuity of the margin of the lower or upper eyelid.
category: PhenotypicFeature
has exact synonym: Eyelid, Notched
has related synonym: Eyelid Coloboma
type: Class
comment: The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term "eyelid coloboma" has been replaced because the word "coloboma" should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as "lower" and "lateral."
subclass of: PhenotypicFeature
equivalent class: HP_0000625

Dolichocephaly
IAO_0000115: Cephalic index less than 76%. Apparently increased antero-posterior length of the head compared to width.
category: PhenotypicFeature
type: Class
comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped).
subclass of: PhenotypicFeature
equivalent class: HP_0000268

Face, Flat
IAO_0000115: Absence of concavity or convexity of the face when viewed in profile.
category: PhenotypicFeature
type: Class
comment: A useful guide is to imagine that a line connecting the glabella to the anterior most part of the mandible touches the top of the philtrum where it meets the base of the columella. The glabella is the most prominent point on the frontal bone above the root of the nose. If the superior philtrum is anterior to this line the face is convex, if the superior philtrum is posterior to this line the face is concave.
subclass of: PhenotypicFeature
equivalent class: HP_0012368

Antitragus, Everted
IAO_0000115: Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).
category: PhenotypicFeature
type: Class
comment: This is a common feature.
subclass of: PhenotypicFeature
equivalent class: HP_0011248

Philtrum, Long
IAO_0000115: Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Apparently increased distance between nasal base and midline upper lip vermilion border.
category: PhenotypicFeature
type: Class
comment: The length of the philtrum usually shows a relation with the length of the nose. The philtrum and nose together occupy the central face zone; a change of length of one will usually be accompanied by a compensatory, opposite change in the length of the other. Therefore a long philtrum often accompanies a Short nose, but this is not always the case and should be assessed and coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0000343

Central Incisor, Single Maxillary
IAO_0000115: Presence of one maxillary central incisor positioned in the midline.
category: PhenotypicFeature
type: Class
comment: If a single maxillary central incisor is present but not positioned in the midline, this could be hypodontia (see Ologodontia), but this cannot be evaluated without a radiograph.
subclass of: PhenotypicFeature
equivalent class: HP_0006315

Forehead, Broad
IAO_0000115: Width of the forehead or distance between the frontotemporales is more than 2 SD above the mean. Apparently increased distance between the two sides of the forehead.
category: PhenotypicFeature
has exact synonym: Forehead, Wide
type: Class
comment: Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow [Farkas, [1981]]. This term should not be confused with Prominent forehead.
subclass of: PhenotypicFeature
equivalent class: HP_0000337

Nasal Bridge, Wide
IAO_0000115: Increased breadth of the nasal bridge.
category: PhenotypicFeature
has exact synonym: Nasal Bridge, Broad
type: Class
comment: Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism [Hall et al., [2009]] (Fig. 2). A wide nasal bridge can be either prominent or depressed, which should be coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0000431

Antihelix, Stem, Underdeveloped
IAO_0000115: Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix (Fig. a,b).
category: PhenotypicFeature
has related synonym: Antihelix Stem, Hypoplastic
has related synonym: Antihelix Stem, Hypotrophic
type: Class
comment: This finding is highly variable, and the range is illustrated in the figure to the right. The degree of prominence is attributable to the volume of the cartilage and/or the acuteness of the folding angle. Interpretation of degree of antihelical prominence may be difficult when the conchal anatomy is distorted, for example a Cupped ear.
subclass of: PhenotypicFeature
equivalent class: HP_0011242

Camptodactyly
IAO_0000115: The DIPJ and/or PIPJ of the fingers cannot be extended to 180? by either active or passive extension.
category: PhenotypicFeature
has related synonym: Streblodactyly
type: Class
comment: Note that some restrict the use of the term to inability to extend the PIP joint of the fifth finger. We do not restrict the term in this way. This term should not be used if the patient has Clenched hand. A similar effect can be created by radial angulation within the distal phalanx with thickening of the epiphysis, which is called Kirner deformity or dystelephalangy [Ozonoff, [1992]]. The affected digits should be specified.
subclass of: PhenotypicFeature
equivalent class: HP_0012385

Eyebrow, Sparse
IAO_0000115: Decreased density/number and/or decreased diameter of eyebrow hairs.
category: PhenotypicFeature
has exact synonym: Hypotrichosis of the Eyebrow
type: Class
comment: Sparseness can be regional (medial, central, lateral) or total. These modifiers should be incorporated into the term, when appropriate.
subclass of: PhenotypicFeature
equivalent class: HP_0000535

Nasal Ridge, Wide
IAO_0000115: Increased width of the nasal ridge.
category: PhenotypicFeature
has exact synonym: Nasal Ridge, Broad
type: Class
comment: This feature should be assessed in a frontal view. There is no objective measure of width. This may give the impression of a Depressed nasal ridge, but this should be assessed in profile and separately coded. Marked widening of the nasal ridge may be difficult to distinguish from a Bifid nose.
subclass of: PhenotypicFeature
equivalent class: HP_0012811

Vermilion, Upper Lip, Thick
IAO_0000115: Height of the vermilion of the upper lip in the midline more than 2 SD above the mean (Fig. 1). apparently increased height of the vermilion of the upper lip in the frontal view.
category: PhenotypicFeature
has related synonym: Coarse Lip
has related synonym: Full Lip
has related synonym: Thick Lip
type: Class
comment: Normal values for the height of the vermilion are available [Farkas, [1981]], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 2). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual.
subclass of: PhenotypicFeature
equivalent class: HP_0000215

Tongue, Small
IAO_0000115: Decreased length and width of the tongue.
category: PhenotypicFeature
has exact synonym: Hypoglossia
has exact synonym: Microglossia
has exact synonym: Rudimentary Tongue
has related synonym: Aglossia
has related synonym: Hypoplastic Tongue
has related synonym: Hypotrophic Tongue
type: Class
comment: Normal standards do not exist. The term "aglossia" is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained.
subclass of: PhenotypicFeature
equivalent class: HP_0000171

Thumb, Broad
IAO_0000115: Increased thumb width without increased dorso-ventral dimension.
category: PhenotypicFeature
has exact synonym: Broad Pollex
has exact synonym: Wide Thumb
type: Class
comment: There is substantial variability in thumb width and it may be difficult to determine the threshold for this finding. As it is commonly bilateral, comparing to the contralateral digit will not be helpful. Some have suggested using a definition of thumb width measured at the IP joint of >1.5X the width of the index finger measured at the DIPJ, but no data to support this are available. Note that this term should not be used for thumbs that meet the definition for Macrodactyly. There is a standard for thumb width at birth of 9.8 ± 0.5 mm (1 SD) (see Saul et al. [1998], p 45), but this is not widely used and does not take into account gestational age, or a body who is small for gestational age. The assessment is difficult when the thumb is short.
subclass of: PhenotypicFeature
equivalent class: HP_0011304

Helix, Posterior Pit
IAO_0000115: Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.
category: PhenotypicFeature
has related synonym: Ear, Posterior Helical Groove
has related synonym: Ear, Posterior Helical Notch
type: Class
comment: They are usually linear to a narrow oval in shape and may be single or multiple [Prescott and Hennekam, [2007]].
subclass of: PhenotypicFeature
equivalent class: HP_0008523

Chin, Horizontal Crease
IAO_0000115: Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.
category: PhenotypicFeature
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0011823

Fingers, Splayed
IAO_0000115: Divergence of digits along the A/P axis (in the plane of the palm).
category: PhenotypicFeature
has exact synonym: Spreading of the Fingers
type: Class
comment: This may be associated with Macrodactyly, but this should be assessed and coded separately. The affected digits should be specified.
subclass of: PhenotypicFeature
equivalent class: HP_0030029

Vermilion, Lower Lip, Thick
IAO_0000115: Height of the vermilion of the lower lip in the midline more than 2 SD above the mean. apparently increased height of the vermilion of the lower lip in the frontal view.
category: PhenotypicFeature
has related synonym: Full Lower Lip
has related synonym: Thick Lower Lip
type: Class
comment: Normal values for the height of the vermilion are available [Farkas, [1981]] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately.
subclass of: PhenotypicFeature
equivalent class: HP_0000179

Mouth, Upturned Corners of
IAO_0000115: Oral commissures positioned superior to the midline labial fissure.
category: PhenotypicFeature
type: Class
comment: This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the upper lip is enlarged.
subclass of: PhenotypicFeature
equivalent class: HP_0010805

Paranasal Tissue, Fullness
IAO_0000115: Increased bulk of tissue alongside the nose.
category: PhenotypicFeature
has related synonym: Laterally Built Up Nose
type: Class
comment: The fullness can be caused by both bony and soft tissues. This is distinct from Wide nasal ridge and Wide nasal bridge.
subclass of: PhenotypicFeature
equivalent class: HP_0012812

Nasal Tip, Depressed
IAO_0000115: Decreased distance from the nasal tip to the nasal base.
category: PhenotypicFeature
has exact synonym: Nasal Tip, Recessed
has exact synonym: Nasal Tip, Retruded
type: Class
comment: This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0000437

Thumb, Triphalangeal
IAO_0000115: A thumb with three phalanges in a single, proximo-distal axis.
category: PhenotypicFeature
has related synonym: Digitalized Thumb
has related synonym: Finger-like Thumb
type: Class
comment: The requirement for a single PD axis relates to the issue that partial forms of Preaxial polydactyly may comprise a partially duplicated thumb with two distal phalanges and a single proximal phalanx. That finding is instead coded as a mild form of thumb polydactyly. Note that this finding can be readily assessed by examination and/or physical manipulation of the thumb.
subclass of: PhenotypicFeature
equivalent class: HP_0001199

Microtia, First Degree
IAO_0000115: Presence of all the normal ear components and the median longitudinal length more than 2 SD below the mean.
category: PhenotypicFeature
type: Class
comment: The definitions of microtia below follow a widely used, surgically based, classification of ear anomalies outlined by Weerda [1988]. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established. See Short ear for a discussion of altered ear length. A better assessment of size would include both length and width (i.e., an estimate of surface area). Normal values for width and length measurements are available [Farkas, [1981]; Hall et al., [2007]].
subclass of: PhenotypicFeature
equivalent class: HP_0011266

Hairline, Low Posterior
IAO_0000115: Hair on the neck extends more inferiorly than usual.
category: PhenotypicFeature
type: Class
comment: This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately.
subclass of: PhenotypicFeature
equivalent class: HP_0002162

Palpebral Fissure, Upslanted
IAO_0000115: The palpebral fissure inclination is more than 2 SD above the mean for age. The inclination of the palpebral fissure is greater than typical for age.
category: PhenotypicFeature
has related synonym: Mongoloid Slant
type: Class
comment: The slant, or inclination, of the palpebral fissure is defined as the angle formed by two lines: an imaginary line that connects the lateral canthus and the medial canthus of each eye, and an imaginary horizontal line formed by the two medial canthi when the patient holds their head with the facial midline vertical, the head in a neutral vertical position (neither flexed nor extended) and the gaze forward [Farkas, [1994]]. Palpebral fissure inclination norms are specified in Farkas [1994] for Caucasians (pg. 283) and for Chinese and African-American populations (limited data, pgs 342, and 349, respectively). Hall et al. [2007] only specifies norms for Caucasians between 6 and 16 years of age. Upslanted palpebral fissures may be associated with microcephaly, but this should be coded separately. Some features (e.g., Ptosis or Epicanthus) may hinder palpebral fissure inclination assessment.
subclass of: PhenotypicFeature
equivalent class: HP_0000582

Eyelashes, Prominent
IAO_0000115: Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly.
category: PhenotypicFeature
type: Class
comment: This is admittedly a bundled term, but it may be useful in clinical practice.
subclass of: PhenotypicFeature
equivalent class: HP_0011231

Tongue, Lobulated
IAO_0000115: Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.
category: PhenotypicFeature
type: Class
comment: Lobulated tongue can bilobed, trilobed, or show multiple lobes.
subclass of: PhenotypicFeature
equivalent class: HP_0000180

Microtia, Third Degree
IAO_0000115: Presence of some auricular structures, but none of these structures conform to recognized ear components.
category: PhenotypicFeature
has related synonym: Ear, Grade III Dysplasia
has related synonym: Ear, Hypoplastic, Group II
has related synonym: Ear, Peanut
type: Class
comment: The definitions of microtia below follow a widely used, surgically based, classification of ear anomalies outlined by Weerda [1988]. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established. This malformation is commonly associated with atresia of the external canal, but that anomaly should be coded separately. Complete absence of the ear should be coded as Anotia.
subclass of: PhenotypicFeature
equivalent class: HP_0011267

Palmar Creases, Decreased
IAO_0000115: Poorly defined or shallow palmar creases.
category: PhenotypicFeature
has related synonym: Smooth Palms
type: Class
comment: This is a completely subjective term, requiring an experienced observer to distinguish this finding from common variation in creases. It refers to an overall diminution of the creases, not to diminution of a subset of the creases.
subclass of: PhenotypicFeature
equivalent class: HP_0006184

Hair Whorl, Abnormal Position
IAO_0000115: Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.
category: PhenotypicFeature
has exact synonym: Crown, Double
type: Class
comment: Placement of hair whorl should be described as parietal, vertex, eccentric, etc. In addition, the number of hair whorls should be noted. Five percent of the population has two whorls.
subclass of: PhenotypicFeature
equivalent class: HP_0010814

Teeth, Fused
category: PhenotypicFeature
type: Class
comment: Dental fusion or double tooth (the joining of teeth with separate roots) can only be distinguished from gemination (bifid crown, where only one pulp chamber or root canal is present), with radiographic evidence [Cameron and Widmer, [2003]]. Therefore this term is not defined here.
subclass of: PhenotypicFeature
equivalent class: HP_0011090

Hairline, High Anterior
IAO_0000115: Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Apparently increased distance between the hairline and the glabella.
category: PhenotypicFeature
has exact synonym: Forehead, High
has exact synonym: Forehead, Tall
type: Class
comment: This measurement is carried out with sliding calipers [Farkas, [1981]]. This feature gives the appearance of a tall forehead, and may or may not include reduction of hair in the temporal areas. This can be distinguished from male pattern baldness as the hairline is the superior boundary of the muscular forehead, which can be actively wrinkled, in contrast to the scalp where no wrinkling can occur. In addition, texture of the skin of the scalp differs from the texture of the skin over the forehead.
subclass of: PhenotypicFeature
equivalent class: HP_0009890

Palm, Broad
IAO_0000115: For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile. The width of the palm appears disproportionately wide for the length.
category: PhenotypicFeature
has exact synonym: Wide Palm
type: Class
comment: Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., [2007]]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al. [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ).
subclass of: PhenotypicFeature
equivalent class: HP_0001169

Nail Narrow
IAO_0000115: Decreased width of nail.
category: PhenotypicFeature
type: Class
comment: Standards for newborns were identified [Seaborg and Bodurtha, [1989]] but none were identified for older persons. Therefore, for newborns, this could be objective, but this is rarely measured. The affected digits should be specified.
subclass of: PhenotypicFeature
equivalent class: HP_0011313

Nail, Split
IAO_0000115: A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.
category: PhenotypicFeature
type: Class
comment: This is distinct from Fused nail, where the two parts of the nail have a separate radius of curvature. The affected digits should be specified as described in the introductory comments.
subclass of: PhenotypicFeature
equivalent class: HP_0001809

Ear, Cupped
IAO_0000115: Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
category: PhenotypicFeature
has related synonym: Ear, Capuchin
type: Class
subclass of: PhenotypicFeature
equivalent class: HP_0000378

Microtia, Second Degree
IAO_0000115: Median longitudinal length of the ear more than 2 SD below the mean in the presence of some, but not all, parts of the normal ear.
category: PhenotypicFeature
has related synonym: Ear, Cockleshell
has related synonym: Ear, Constricted Helix Type IV
has related synonym: Ear, Cupped Severe, Type III
has related synonym: Ear, Grade II Dysplasia
has related synonym: Ear, Mini
has related synonym: Ear, Shell
has related synonym: Ear, Snail
type: Class
comment: The definitions of microtia below follow a widely used, surgically based, classification of ear anomalies outlined by Weerda [1988]. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established.
subclass of: PhenotypicFeature
equivalent class: HP_0008569

Antitragus, Underdeveloped
IAO_0000115: Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.
category: PhenotypicFeature
has exact synonym: Antitragus, Small
has related synonym: Antitragus, Hypoplastic
has related synonym: Antitragus, Hypotrophic
type: Class
comment: This finding is highly variable, and the range is illustrated in the figures from Antitragus, Prominent and Antitragus, Absent.
subclass of: PhenotypicFeature
equivalent class: HP_0011251

Tag, Preauricular
IAO_0000115: Small non-cartilaginous protrusion anterior to the insertion of the ear.
category: PhenotypicFeature
type: Class
comment: The location of these tags is the plane of fusion of the first branchial cleft [Wood-Jones and I-Chuan, [1933]]. At times it can be a challenge to distinguish other pedunculated lesions in this area; specifically duplications of ear components, Pretragal ectopias, or a striated muscle hamartoma. Preauricular tags usually lack hair, are limited to the plane of fusion, and do not contain striated muscle.
subclass of: PhenotypicFeature
equivalent class: HP_0000384

Antihelix, Inferior Crus, Broad
IAO_0000115: Increased width of the inferred cross-section of the inferior crus.
category: PhenotypicFeature
type: Class
comment: This finding is highly variable, and the range is illustrated in Figure 8. The inferior crus is usually sharply folded giving a narrow profile.
subclass of: PhenotypicFeature
equivalent class: HP_0011237

Teeth, Widely Spaced
IAO_0000115: Increased spaces (diastemata) between most of the teeth in the same dental arch.
category: PhenotypicFeature
has exact synonym: Multiple Diastemata
type: Class
comment: Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema.
subclass of: PhenotypicFeature
equivalent class: HP_0000687

Lobe, Large
IAO_0000115: Increased volume of the earlobe (Fig. d,e).
category: PhenotypicFeature
has related synonym: Fleshy Lobe
has related synonym: Hyperplastic Lobe
has related synonym: Hypertrophic Lobe
type: Class
comment: All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable, and the range is illustrated to the right. Lobe size increases throughout adulthood [Ferrario et al., [1999]; Itoh et al., [2001]].
subclass of: PhenotypicFeature
equivalent class: HP_0009748

Lacrimal Punctum, Ectopic
IAO_0000115: Positioning of a lacrimal punctum other than at the medial margins of the eyelid.
category: PhenotypicFeature
type: Class
comment: The openings of the tear ducts are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. Ectopic positions can include the upper eyelid, nasal bridge, or inferior to medial aspect of the lower lid.
subclass of: PhenotypicFeature
equivalent class: HP_0010748

Face, Prematurely Aged
category: PhenotypicFeature
type: Class
comment: This term is to be deleted as it represents a conclusion based on a number of features, such as thin skin, more prominent subcutaneous venous patterning, lack of subcutaneous fat, excessive wrinkles, and pigmentary changes, that are defined elsewhere.
subclass of: PhenotypicFeature
equivalent class: HP_0007495

Nasal Base, Narrow
IAO_0000115: Decreased distance between the attachments of the alae nasi to the face.
category: PhenotypicFeature
type: Class
comment: There is a marked difference in width of the nasal base depending on ethnic background.
subclass of: PhenotypicFeature
equivalent class: HP_0012809

Metatarsal, Short
IAO_0000115: Diminished length of a metatarsal, with resultant proximal displacement of the associated toe.
category: PhenotypicFeature
type: Class
comment: This is a subjective assessment and one generally compares the position of the MTP joint to that of the contralateral digit or the putatively shortened ray in proportion to the other rays. The affected digits should be specified.
subclass of: PhenotypicFeature
equivalent class: HP_0010743

Hand, Ulnar Deviation of
IAO_0000115: Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction.
category: PhenotypicFeature
has related synonym: Clubhand
has related synonym: Ulnar Clubhand
type: Class
comment: May be associated with a short or absent ulna, but that is not required.
subclass of: PhenotypicFeature
equivalent class: HP_0001193

Helix, Darwin Notch
IAO_0000115: Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix (Fig. b).
category: PhenotypicFeature
type: Class
comment: Defects at other points along the helix are coded as Cleft helix.
subclass of: PhenotypicFeature
equivalent class: HP_0011260