Williams Syndrome

Williams syndrome is a genetic disorder caused by a microdeletion of roughly two dozen genes on chromosome 7, including the gene for elastin, a protein that gives blood vessels and other tissues their elasticity. It commonly causes cardiovascular problems, particularly narrowing above the aortic valve, distinctive facial features, intellectual disability paired with relatively strong verbal and social skills, and an unusually outgoing, highly empathetic personality. New Zealand cardiologist J.C.P. Williams first described the syndrome in 1961 after noticing the same pattern of heart defect and facial appearance in a group of patients.