Weill-Marchesani syndrome 2, dominant

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: mesodermal Dysmorphodystrophy, congenital, spherophakia-brachymorphia syndrome, GEMSS, GEMSS syndrome, WMS2, Weill-Marchesani syndrome 2, Weill-Marchesani syndrome type 2, Weill-Marchesani syndrome, autosomal dominant

0 clinical trials for this condition and its sub-types, 0 tagged with Weill-Marchesani syndrome 2, dominant itself.