Orphanet: Glaucoma ectopia lentis microspherophakia stiff joints short stature syndrome

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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

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: C1869115 C2931588
MeSH: -
GARD: 2452
MedDRA: -

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

ORPHA:2084

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