Williams Syndrome

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.

Also Known As:

Williams-Beuren Syndrome; Syndrome, Williams; Beuren Syndrome; Chromosome 7q11.23 Deletion Syndrome; Hypercalcemia-Supravalvar Aortic Stenosis; Supravalvar Aortic Stenosis Syndrome; Williams Contiguous Gene 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-Beuren; Williams Beuren Syndrome; Contiguous Gene Syndrome, Williams

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Williams Syndrome: 463
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Heart Valve Diseases: 1865
    - Aortic Valve Disease: 802
      - Aortic Valve Stenosis: 7844
        Supravalvular Aortic Stenosis: 170
        Williams Syndrome: 463
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Chromosome Disorders: 136
    - Williams Syndrome: 463
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Williams Syndrome: 463

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Frank H Ruddle Research Topics

Disease

Drug/Important Bio-Agent (IBA)