Definition: A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
do not confuse with Williams-Campbell syndrome, a congenital cartilage deficiency
See AlsoElastin; Intellectual Disability
Other names Williams Beuren Syndrome; Syndrome, Williams-Beuren; Syndrome, Williams; Syndrome, Elfin Facies; Elfin Facies Syndromes; Williams-Beuren Syndrome; Williams Contiguous Gene Syndrome; Contiguous Gene Syndrome, Williams; Elfin Facies Syndrome
