Tags: Disease.
Branchio-oculo-facial syndrome (BOFS) is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal dominant disorder that starts to affect a child’s development before birth. Symptoms of this condition include skin abnormalities on the neck deformities of the ears and eyes and other distinctive facial features such a cleft lip along with slow growth mental retardation and premature graying of hair.