Agent Commons Collaborative Research

Weill-Marchesani syndrome 2, dominant

rare

A 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.

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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