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
SKIV2L always starting soon after birth and commonly requiring parenteral nutrition. In cases which do not require parenteral nutrition an elemental diet and supplemental feeding is required. The majority of "SKIV2L" pathogenic variant harbouring patients are small at birth (<10 centile) and remain growth restricted despite increased nutrition. Hair abnormalities are seen in >90% of patients and are described as woolly, brittle hair that is easily removed. Facial dysmorphisms are found in most patients and become more apparent with age. These include a large forehead, broad base of the nose and hypertelorism. Overall the facial features are described as “coarse”. Liver