branchiooculofacial syndrome
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.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
BOFS
exact
BOFS syndrome
exact
Bof syndrome
exact
Branchio Oculo Facial Syndrome
exact
branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing
exact
branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging
exact
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Ageing
exact
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging
exact
branchio-oculo-facial syndrome
exact
branchiooculofacial syndrome
exact
hemangiomatous branchial clefts-Lip Pseudocleft syndrome
exact
lip Pseudocleft-Hemangiomatous branchial cyst syndrome
exact