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Williams Syndrome MeSH Descriptor Data 2023


MeSH Heading
Williams Syndrome
Tree Number(s)
C10.597.606.360.970
C14.280.484.048.750.535.960
C16.131.260.970
C16.320.180.970
Unique ID
D018980
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D018980
Annotation
do not confuse with Williams-Campbell syndrome, a congenital cartilage deficiency
Scope Note
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.
Entry Term(s)
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
Previous Indexing
Aortic Valve Stenosis (1969-1995)
See Also
Elastin
Intellectual Disability
Public MeSH Note
96
History Note
96
Date Established
1996/01/01
Date of Entry
1995/05/24
Revision Date
2020/02/28
Williams Syndrome Preferred
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