Williams Syndrome
"Williams Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D018980
|
| MeSH Number(s) |
C10.597.606.643.970 C14.280.484.150.535.960 C16.131.260.970 C16.320.180.970
|
| Concept/Terms |
Williams Syndrome- Williams Syndrome
- Syndrome, Williams
- Contiguous Gene Syndrome, Williams
- Supravalvar Aortic Stenosis Syndrome
- Williams-Beuren Syndrome
- Syndrome, Williams-Beuren
- Williams Beuren 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
- Chromosome 7q11.23 Deletion Syndrome
- Williams Contiguous Gene Syndrome
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Below are MeSH descriptors whose meaning is more general than "Williams Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Williams Syndrome".
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Below are the most recent publications written about "Williams Syndrome" by people in Profiles.