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.
Also Known As:
Williams-Beuren Syndrome; Syndrome, Williams; Beuren Syndrome; Chromosome 7q11.23 Deletion Syndrome; Hypercalcemia-Supravalvar Aortic Stenosis; Supravalvar Aortic Stenosis Syndrome; Williams Contiguous Gene Syndrome; Aortic Stenoses, Hypercalcemia-Supravalvar; Aortic Stenosis, Hypercalcemia-Supravalvar; Hypercalcemia Supravalvar Aortic Stenosis; Hypercalcemia-Supravalvar Aortic Stenoses; Stenoses, Hypercalcemia-Supravalvar Aortic; Stenosis, Hypercalcemia-Supravalvar Aortic; Syndrome, Beuren; Syndrome, Williams-Beuren; Williams Beuren Syndrome; Contiguous Gene Syndrome, Williams