Branchio-oculo-facial syndrome Branchio-oculo-facial syndrome 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. "Branchio" refers to the branchial arches, also known as the pharyngeal arches, of the affected individual. The branchial arches are structures in the developing embryo that give rise to certain tissues
Facial femoral syndrome Facial femoral syndrome Facial femoral syndrome is a rare congenital disorder. It is also known as femoral dysgenesis, bilateral femoral dysgenesis, bilateral-Robin anomaly and femoral hypoplasia-unusual facies syndrome. The main features of this disorder are underdeveloped thigh bones (femurs) and unusual facial features. Of note intellectual development typically is normal. The cause of this condition is not known. A genetic basis is suspected. More than one case have been reported in three families. The diagnosis is based on the combination of unusual facial features and the dysplastic or absent femurs. Diagnosis may be made antenatally. There is no known specific