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Branchiooculofacial syndrome
rareBranchio-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.
- Identifiers
- MONDO:0007235 OMIM:113620Orphanet:1297
- Causal genes
- TFAP2A
- Part of
- Autosomal dominant diseaseMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- 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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