has material basis in germline mutation in
FBN1
Weill-Marchesani syndrome 2, dominant
https://github.com/monarch-initiative/mondo/issues/4948
GEMSS
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.
glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome
Weill-Marchesani syndrome type 2
MONDO:0012013
Weill-Marchesani syndrome 2
spherophakia-brachymorphia syndrome
SCTID:722450007
GEMSS syndrome
OMIM:608328
Orphanet:2084
GARD:15428
glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome
Weill-Marchesani syndrome, autosomal dominant
mesodermal Dysmorphodystrophy, congenital
WMS2
GARD:2452
Weill-Marchesani syndrome