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

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