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

Disease definition

Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).

ORPHA:2084

  • Synonym(s):
    • GEMSS syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: Q87.1
  • OMIM: 608328
  • UMLS: C1869115  C2931588
  • MeSH: -
  • GARD: 2452
  • MedDRA: -
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