Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes.
We report on a syndrome of progressive joint stiffness, glaucoma, and lens dislocation observed in three generations and compare it with two previous records of short stature, lens ectopia, and articular limitation. This family confirms the existence of a dominant Weill-Marchesani-like syndrome. We suggest that it could be related to the Moore-Federman syndrome. We coin the acronym GEMSS syndrome (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited syndrome.
Verloes
A
A
Centre for Human Genetics, Liège University, Belgium.
Hermia
J P
JP
Galand
A
A
Koulischer
L
L
Dodinval
P
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D004479:Ectopia Lentis / Q000235:genetics*; D005260:Female; D005901:Glaucoma / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007592:Joint Diseases / Q000235:genetics*; D008297:Male; D011247:Pregnancy; D013577:Syndrome