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
Williams syndrome new patients with the same presentation. This led to the syndrome's full original name of Williams-Beuren syndrome, which is still used in some medical publications. From 1964 to 1975, small research reports broadened medical knowledge of this syndrome's cardiovascular problems. Then in 1975, K. Jones and D. Smith conducted a large-scale report on numerous patients with Williams syndrome, ranging in age from infancy to adulthood, and described the behavioral and observable physical symptoms in greater detail than previously recorded. The adjective "elfin" may have originated to describe the facial features of people with Williams syndrome; before Williams syndrome's scientific cause