GTR Home > Conditions/Phenotypes > Williams syndrome

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.

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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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.

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