Williams Syndrome
Synonyms
Aortic Stenoses, Hypercalcemia-Supravalvar
Aortic Stenosis, Hypercalcemia-Supravalvar
Beuren Syndrome
Chromosome 7q11.23 Deletion Syndrome
Contiguous Gene Syndrome, Williams
Hypercalcemia Supravalvar Aortic Stenosis
Hypercalcemia-Supravalvar Aortic Stenoses
Hypercalcemia-Supravalvar Aortic Stenosis
Stenoses, Hypercalcemia-Supravalvar Aortic
Stenosis, Hypercalcemia-Supravalvar Aortic
Supravalvar Aortic Stenosis Syndrome
Syndrome, Beuren
Syndrome, Williams
Syndrome, Williams-Beuren
Williams Beuren Syndrome
Williams Contiguous Gene Syndrome
Williams-Beuren Syndrome
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.
See Also