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Weill-Marchesani Syndrome

Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.

Year introduced: 2010

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Tree Number(s): C05.116.099.343.957, C11.270.921, C16.131.077.941, C16.320.290.842, C17.300.899

MeSH Unique ID: D056846

Entry Terms:

  • Congenital Mesodermal Dysmorphodystrophy
  • Marchesani Syndrome
  • Marchesani-Weill Syndrome
  • Marchesani Weill Syndrome
  • Marchesani-Weill Syndromes
  • Mesodermal Dysmorphodystrophy, Congenital
  • Congenital Mesodermal Dysmorphodystrophies
  • Dysmorphodystrophies, Congenital Mesodermal
  • Dysmorphodystrophy, Congenital Mesodermal
  • Mesodermal Dysmorphodystrophies, Congenital
  • Spherophakia Brachymorphia Syndrome
  • Spherophakia Brachymorphia Syndromes
  • Syndrome, Spherophakia Brachymorphia
  • Syndromes, Spherophakia Brachymorphia
  • Spherophakia-Brachymorphia Syndrome
  • Weill Marchesani Syndrome
  • Weill-Marchesani Syndrome, Autosomal Dominant
  • Weill Marchesani Syndrome, Autosomal Dominant
  • GEMSS
  • Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome
  • Weill-Marchesani Syndrome, Autosomal Recessive
  • Weill Marchesani Syndrome, Autosomal Recessive

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