"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.
- Williams Syndrome
- Syndrome, Williams
- Williams Contiguous Gene Syndrome
- Contiguous Gene Syndrome, Williams
- Williams-Beuren Syndrome
- Syndrome, Williams-Beuren
- Williams Beuren Syndrome
- Elfin Facies Syndrome
- Elfin Facies Syndromes
- Syndrome, Elfin Facies
Below are MeSH descriptors whose meaning is more general than "Williams Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Williams Syndrome".
This graph shows the total number of publications written about "Williams Syndrome" by people in the URMC Research Network by year, and whether "Williams Syndrome" was a major or minor topic of these publication.