Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes

Am J Med Genet. 1992 Sep 1;44(1):48-51. doi: 10.1002/ajmg.1320440112.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Ectopia Lentis / genetics*
  • Female
  • Glaucoma / genetics*
  • Growth Disorders / genetics*
  • Humans
  • Joint Diseases / genetics*
  • Male
  • Pregnancy
  • Syndrome