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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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

Below are MeSH descriptors whose meaning is more general than "Williams Syndrome".

Diseases [C]
Nervous System Diseases [C10]
Neurologic Manifestations [C10.597]
Neurobehavioral Manifestations [C10.597.606]
Intellectual Disability [C10.597.606.643]
Williams Syndrome [C10.597.606.643.970]
Cardiovascular Diseases [C14]
Heart Diseases [C14.280]
Heart Valve Diseases [C14.280.484]
Aortic Valve Stenosis [C14.280.484.150]
Aortic Stenosis, Supravalvular [C14.280.484.150.535]
Williams Syndrome [C14.280.484.150.535.960]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Chromosome Disorders [C16.131.260]
Williams Syndrome [C16.131.260.970]
Genetic Diseases, Inborn [C16.320]
Chromosome Disorders [C16.320.180]
Williams Syndrome [C16.320.180.970]

Below are MeSH descriptors whose meaning is more specific than "Williams Syndrome".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Williams Syndrome" by people in this website by year, and whether "Williams Syndrome" was a major or minor topic of these publications.

Bar chart showing 1 publications over 1 distinct years, with a maximum of 1 publications in 2022

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