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.
MONDO:0018096
Weill-Marchesani syndrome
is_a
GEMSS
exact
GEMSS syndrome
exact
WMS2
exact
Weill-Marchesani syndrome 2
exact
Weill-Marchesani syndrome type 2
exact
Weill-Marchesani syndrome, autosomal dominant
exact
glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome
exact
glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome
exact
mesodermal Dysmorphodystrophy, congenital
broad
spherophakia-brachymorphia syndrome
broad