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.
Also Known As:
Congenital Mesodermal Dysmorphodystrophy; GEMSS; Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome; Marchesani Syndrome; Marchesani-Weill Syndrome; Spherophakia-Brachymorphia Syndrome; Weill-Marchesani Syndrome, Autosomal Dominant; Congenital Mesodermal Dysmorphodystrophies; Dysmorphodystrophies, Congenital Mesodermal; Dysmorphodystrophy, Congenital Mesodermal; Marchesani Weill Syndrome; Marchesani-Weill Syndromes; Mesodermal Dysmorphodystrophies, Congenital; Spherophakia Brachymorphia Syndromes; Syndrome, Spherophakia Brachymorphia; Syndromes, Spherophakia Brachymorphia; Weill Marchesani Syndrome, Autosomal Dominant; Weill Marchesani Syndrome, Autosomal Recessive; Mesodermal Dysmorphodystrophy, Congenital; Spherophakia Brachymorphia Syndrome; Weill Marchesani Syndrome; Weill-Marchesani Syndrome, Autosomal Recessive