Williams Syndrome

**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.

**Tree numbers:** - C10.597.606.360.970 - C14.280.484.048.750.535.960 - C16.131.260.970 - C16.320.180.970

**Synonyms:** - Hypercalcemia-Supravalvar Aortic Stenosis - Supravalvar Aortic Stenosis Syndrome - Contiguous Gene Syndrome, Williams - Williams Contiguous Gene Syndrome - Chromosome 7q11.23 Deletion Syndrome - Beuren Syndrome - Williams-Beuren Syndrome