Synonym(s): - Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See 1 MeSH reference: C538076
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
TFAP2B	Q92481	601601

- Autosomal dominant inheritance
- Depressed nasal bridge
- Depressed premaxillary region / midface
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Everted lower lip
- Flattened nose
- Hypertelorism
- Patent ductus arteriosus
- Ptosis
- Short philtrum
- Thick lips

- Clinodactyly of fifth finger

- Anodontia / oligodontia / hypodontia
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Myopia
- Polydactyly of toes
- Prominent occiput / occipital bossing
- Somnolence / hypersomnia / parasomnia
- Strabismus / squint
- Supernumerary nipples / polythelia
- Symphalangy of fingers
- Syndactyly of toes
- Upper limb polydactyly / hexadactyly
- Ventricular septal defect / interventricular communication