branchiooculofacial syndrome; lip pseudocleft-hemangiomatous branchial cyst syndrome

Epidemiology

• rare

Genetics

• autosomal dominant
• associated with defects in TFAP2A
• variable expressivity

Clinical manifestations

• growth retardation
• imperforate nasolacrimal duct
• premature aging
• cleft palate
• cutaneous anomalies
• ocular anomalies
• characteristic facial appearance
  • malformed pinnae
  • oral clefts
• less commonly
  • renal anomalies
  • ectodermal anomalies
    • dental anomalies
    • hair anomalies

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/113620