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:
Marchesani-Weill Syndrome; Weill-Marchesani Syndrome, Autosomal Dominant; Brachymorphia Syndrome, Spherophakia; Congenital Mesodermal Dysmorphodystrophies; Congenital Mesodermal Dysmorphodystrophy; Dysmorphodystrophies, Congenital Mesodermal; Dysmorphodystrophy, Congenital Mesodermal; Marchesani Weill Syndrome; Marchesani-Weill Syndromes; Mesodermal Dysmorphodystrophies, Congenital; Spherophakia Brachymorphia Syndromes; Syndrome, Marchesani-Weill; Syndrome, Spherophakia Brachymorphia; Syndrome, Weill-Marchesani; Syndromes, Marchesani-Weill; 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