Weill-Marchesani Syndrome

Weill-Marchesanis syndrom

Engelsk definition

Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.

Svenska synonymer

Marchesani-Weills syndrom Autosomalt recessivt Weill-Marchesani-syndrom Marchesanis syndrom

Engelska synonymer

Marchesani Syndrome Weill Marchesani Syndrome Mesodermal Dysmorphodystrophy, Congenital Congenital Mesodermal Dysmorphodystrophies Dysmorphodystrophies, Congenital Mesodermal Dysmorphodystrophy, Congenital Mesodermal Mesodermal Dysmorphodystrophies, Congenital Spherophakia Brachymorphia Syndrome Spherophakia Brachymorphia Syndromes Syndrome, Spherophakia Brachymorphia Syndromes, Spherophakia Brachymorphia Spherophakia-Brachymorphia Syndrome Congenital Mesodermal Dysmorphodystrophy Marchesani-Weill Syndrome Marchesani Weill Syndrome Marchesani-Weill Syndromes Weill-Marchesani Syndrome, Autosomal Recessive Weill Marchesani Syndrome, Autosomal Recessive Weill-Marchesani Syndrome, Autosomal Dominant Weill Marchesani Syndrome, Autosomal Dominant Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome GEMSS