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Weill-Marchesani syndrome

Disease definition

Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

ORPHA:3449

  • Synonym(s):
    • Spherophakia-brachymorphia syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 277600  608328  614819
  • UMLS: C0265313
  • MeSH: D056846
  • GARD: 4936
  • MedDRA: 10064963

Detailed information

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Additional information

Further information on this disease

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