Structured Summary
Abstract
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.
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Classification
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Synonyms
17 entry terms
- Beuren Syndrome
- Chromosome 7q11.23 Deletion Syndrome
- Contiguous Gene Syndrome, Williams
- Hypercalcemia-Supravalvar Aortic Stenosis
- Supravalvar Aortic Stenosis Syndrome
- Williams Contiguous Gene Syndrome
- Williams-Beuren Syndrome
- Aortic Stenoses, Hypercalcemia-Supravalvar
- Aortic Stenosis, Hypercalcemia-Supravalvar
- Hypercalcemia Supravalvar Aortic Stenosis
- Hypercalcemia-Supravalvar Aortic Stenoses
- Stenoses, Hypercalcemia-Supravalvar Aortic
- Stenosis, Hypercalcemia-Supravalvar Aortic
- Syndrome, Beuren
- Syndrome, Williams
- Syndrome, Williams-Beuren
- Williams Beuren Syndrome
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
Indexing Annotation
do not confuse with Williams-Campbell syndrome, a congenital cartilage deficiency
MeSH Record
History Note
96
MeSH Record
Previous Indexing
- Aortic Valve Stenosis (1969-1995)
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AMA Style
References
- National Library of Medicine. Williams Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D018980. http://id.nlm.nih.gov/mesh/2026/D018980
- Williams Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Williams_syndrome
- Williams Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q558077