Williams 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.
Year introduced: 1996
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Tree Number(s): C10.597.606.360.970, C14.280.484.048.750.535.960, C16.131.260.970, C16.320.180.970
MeSH Unique ID: D018980
Entry Terms:
- Syndrome, Williams
- Contiguous Gene Syndrome, Williams
- Supravalvar Aortic Stenosis Syndrome
- Chromosome 7q11.23 Deletion Syndrome
- Beuren Syndrome
- Syndrome, Beuren
- Hypercalcemia-Supravalvar Aortic Stenosis
- Aortic Stenoses, Hypercalcemia-Supravalvar
- Aortic Stenosis, Hypercalcemia-Supravalvar
- Hypercalcemia Supravalvar Aortic Stenosis
- Hypercalcemia-Supravalvar Aortic Stenoses
- Stenoses, Hypercalcemia-Supravalvar Aortic
- Stenosis, Hypercalcemia-Supravalvar Aortic
- Williams-Beuren Syndrome
- Syndrome, Williams-Beuren
- Williams Beuren Syndrome
- Williams Contiguous Gene Syndrome
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