/Weill-Marchesani syndrome 2, dominant

Weill-Marchesani syndrome 2, dominant

Rare Disease

MONDO:0012013

Also Known As

mesodermal Dysmorphodystrophy, congenitalspherophakia-brachymorphia syndromeGEMSSGEMSS syndromeWMS2Weill-Marchesani syndrome 2Weill-Marchesani syndrome type 2Weill-Marchesani syndrome, autosomal dominantglaucoma, ectopia, microspherophakia, Stiff joints and short stature syndromeglaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome

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.