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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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What causes Weill-Marchesani syndrome?

Weill-Marchesani syndrome is usually caused by mutations in the ADAMTS10 gene. Two families have been found with mutations in different genes, one with a mutation in FBN1 and one with a mutation in LTBP2.[1]
Last updated: 10/3/2013

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