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Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome

Disease definition

A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.

ORPHA:2084

Classification level: Disorder
  • Synonym(s):
    • GEMSS syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: Q87.1
  • OMIM: 608328
  • UMLS: C2931588
  • MeSH: C537679
  • GARD: 2452
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Français (2007) Italiano (2007) Nederlands (2007)

Additional information

Further information on this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.