Weill-Marchesani syndrome 2, dominant
Weill-Marchesani syndrome 2, dominant
Definition
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-lens ectopia-microspherophakia-stiffness-shortness syndrome, glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome, Weill-Marchesani syndrome 2, Weill-Marchesani syndrome type 2, Weill-Marchesani syndrome, autosomal dominant, WMS2 — per MONDO