Weill-Marchesani syndrome (DOID:0050475)
Alliance: disease page
Synonyms: congenital mesodermal dystrophy; GEMSS syndrome; Marchesani-Weill Syndrome; Mesodermal Dysmorphodystrophy, Congenital; Spherophakia Brachymorphia Syndrome
Alt IDs: OMIM:277600, OMIM:608328, OMIM:613195, OMIM:614819, MESH:D056846, NCI:C85226, OMIM:PS277600, ORDO:3449, UMLS_CUI:C0265313, UMLS_CUI:C1869114, UMLS_CUI:C1869115
Definition: A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.