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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
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 113620
References
OMIM :accession 113620