Disease - Weill-Marchesani syndrome 2
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Definition
A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.
Acronym
WMS2
Synonyms
Autosomal dominant Weill-Marchesani syndrome
Congenital mesodermal dysmorphodystrophy
GEMSS
Glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome
Spherophakia-brachymorphia syndrome
Congenital mesodermal dysmorphodystrophy
GEMSS
Glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome
Spherophakia-brachymorphia syndrome
Keywords
› Dwarfism