branchiooculofacial syndrome

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branchiooculofacial syndrome

An extremely rare autosomal dominant cleft palate craniofacial disorder (OMIM:113620) with variable expression, characterised by cutaneous anomalies, ocular anomalies (e.g., microphthalmia and lacrimal duct obstruction), characteristic facies (malformed pinnae), oral clefts and, less commonly, renal and ectodermal (dental and hair) defects.

Molecular pathology
Caused by defects of TFAP2A, which encodes a transcription factor involved in proper eye, face, body wall, limb and neural tube development.

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