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