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glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.
Mondo Term and Equivalent IDs
MONDO:0012013:  glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome
GARD:0002452: 
Orphanet:2084: 
SCTID:722450007: