Agent Commons Collaborative Research

Branchiooculofacial syndrome

rare

Branchio-oculo-facial syndrome (BOFS) is characterized by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.

Causal genes
TFAP2A
Also known as
Bof syndrome · BOFS · BOFS syndrome · branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing · branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging

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