Branchiooculofacial syndrome
Branchiooculofacial syndrome
Definition
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.
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, 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, Branchio Oculo Facial Syndrome, branchio-oculo-facial syndrome, branchiooculofacial syndrome, hemangiomatous branchial clefts-Lip Pseudocleft syndrome, lip Pseudocleft-Hemangiomatous branchial cyst syndrome — per MONDO