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Williams syndrome

Synonyms
CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB; Williams-Beuren syndrome
Modes of inheritance
Autosomal dominant inheritance (HPO, OMIM)

Summary

Excerpted from the GeneReview: Williams Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Colleen A Morris
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Available tests

73 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (126 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADCL1, SVAS, WBS, WS, ELN
    Summary: elastin

  • Also known as: CHREBP, MIO, MLX, MONDOB, WBSCR14, WS-bHLH, bHLHd14, MLXIPL
    Summary: MLX interacting protein like

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACC/AHA, 2008
    ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in Collaboration With the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.

Molecular resources

Consumer resources

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