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Williams syndrome

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Description

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.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

7

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Genes

External Links

  • OMIM

    194050

  • Orphanet

    904

  • HPO
  • Medgen

    C0175702

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