/branchiooculofacial syndrome

branchiooculofacial syndrome

Rare Disease

MONDO:0007235

Also Known As

BOFSBOFS syndromeBof syndromeBranchio Oculo Facial Syndromebranchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageingbranchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature agingbranchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Ageingbranchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Agingbranchio-oculo-facial syndromebranchiooculofacial syndromehemangiomatous branchial clefts-Lip Pseudocleft syndromelip Pseudocleft-Hemangiomatous branchial cyst 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.