Traits

Traits linked to TFAP2A

transcription factor AP-2 alpha

The Human Phenotype Ontology links 94 traits to TFAP2A, by body system: features seen in people with one of the gene's rare conditions.

TFAP2A

Abnormality of head or neck

Trait	How often it is seen
Deep philtrum	Very often (80–99%)
Drooping lower lip	Very often (80–99%)
Pit above the ear	Very often (80–99%)
Pit behind the ear	Very often (80–99%)
Pit in front of the ear	Very often (80–99%)
Blocked tear duct	Often (30–79%)
Broad nasal tip	Often (30–79%)
Decreased number of teeth	Often (30–79%)
Decreased size of tooth	Often (30–79%)
Dimple chin	Often (30–79%)
High palate	Often (30–79%)
Long, narrow head	Often (30–79%)
Non-midline cleft of the upper lip	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Bell's palsy	Sometimes (5–29%)
Cleft of chin	Sometimes (5–29%)
Cleft of the mouth	Sometimes (5–29%)
Upper lip pit	Sometimes (5–29%)
Abnormal dentition	Not recorded
Abnormally small head	Not recorded
Branchial anomaly	Not recorded
Cleft palate	Not recorded
Cleft upper lip	Not recorded
Corners of eye widely separated	Not recorded
Depressed nasal bridge	Not recorded
Little lower jaw	Not recorded
Low hairline at back of neck	Not recorded
Lower lip pit	Not recorded
Short nasal septum	Not recorded
Short neck	Not recorded
Small forehead	Not recorded
Zygomatic flattening	Not recorded

Abnormality of the eye

Trait	How often it is seen
Notched pupil	Very often (80–99%)
Abnormally small eyeball	Often (30–79%)
Cat eye	Often (30–79%)
Hole in the back of the eye	Often (30–79%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cornea of eye less than 10mm in diameter	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Absence of eyeballs	Not recorded
Close sighted	Not recorded
Involuntary, rapid, rhythmic eye movements	Not recorded
Wide-set eyes	Not recorded

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Very often (80–99%)
Conductive deafness	Very often (80–99%)
Ears rotated toward back of head	Very often (80–99%)
Hearing impairment	Very often (80–99%)
Fusion of middle ear ossicles	Not recorded
Hypoplastic superior helix	Not recorded
Low-set ears	Not recorded
Overfolded ears	Not recorded
Sensorineural hearing impairment	Not recorded
Small ears	Not recorded

Abnormality of the integument

Trait	How often it is seen
Atypical scarring of skin	Very often (80–99%)
Abnormal fingernail development	Often (30–79%)
Premature graying of hair	Often (30–79%)
Sparse hair	Sometimes (5–29%)
Absence of part of skin at birth	Not recorded
Dermoid cyst	Not recorded
Skin degeneration	Not recorded
Small fingernail	Not recorded
White part of hair above forehead	Not recorded

Abnormality of limbs

Trait	How often it is seen
Extra thumb	Sometimes (5–29%)
Attachment of thumb close to wrist	Not recorded
Curvature of little finger	Not recorded
Elbow flexion contracture	Not recorded
Short thumb	Not recorded
Single transverse palmar crease	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Multicystic kidney dysplasia	Sometimes (5–29%)
Cystic kidney disease	Not recorded
Hypospadias	Not recorded
Undescended testes	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal speech pattern	Often (30–79%)
Agenesis of cerebellar vermis	Not recorded
Epilepsy	Not recorded
Intellectual disability, mild	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Not recorded
Malrotation of colon	Not recorded
Pyloric stenosis	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay as children	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Accessory nipple	Not recorded
Wide-spaced nipples	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Strawberry mark	Very often (80–99%)
Abnormal thymus position	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Hunched back	Not recorded
Prominent swayback	Not recorded

Abnormal tissue mass

Trait	How often it is seen
Hamartoma	Not recorded

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to TFAP2A and how often each is seen. Find out more at hpo.jax.org.

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