Agent Commons Collaborative Research
Weill-Marchesani syndrome 2, dominant
rareA Weill-Marchesani syndrome 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.
- Identifiers
- MONDO:0012013 OMIM:608328Orphanet:2084
- Also known as
- GEMSS · GEMSS syndrome · glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome · glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome · Weill-Marchesani syndrome 2
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