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Genetic and Rare Diseases Information Center (GARD)

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Weill-Marchesani syndrome

Other Names for this Disease
  • Mesodermal dysmorphodystrophy congenital
  • Spherophakia-brachymorphia syndrome
  • WM Syndrome
  • WMS
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Tests & Diagnosis

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How is Weill-Marchesani syndrome diagnosed?

The diagnosis of Weill-Marchesani syndrome is made on the presence of the characteristic signs and symptoms. Genetic testing can help confirm the diagnosis.[1] The Genetic Testing Registry (GTR) provides information on the genetic tests available for Weill-Marchesani syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 10/3/2013

  1. Ekaterini Tsilou and Ian M MacDonald. Weill-Marchesani Syndrome. GeneReviews. 02/14/2013; Accessed 10/3/2013.