Weill-Marchesani syndrome MESH:D056846 ORDO:3449 A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. SNOMEDCT_US_2020_03_01:205801004 OMIM:608328 UMLS_CUI:C0265313 OMIM:613195 disease_ontology DOID:0050475 GARD:4936 UMLS_CUI:C1869114 Xref MGI. OMIM mapping confirmed by DO. [LS]. UMLS_CUI:C1869115 OMIM:277600 OMIM:614819 NCI:C85226 GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy autosomal genetic disease syndrome