autosomal recessive disease Ellis-van Creveld syndrome Chondroectodermal dysplasia DOID:12714 EVC Ellis Van Creveld syndrome Ellis-VAN Creveld syndrome Ellis-van Creveld syndrome Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects. GARD:0001301 ICD10:Q77.6 ICD9:756.55 MESH:D004613 MONDO:0009162 MedDRA:10008724 Mesoectodermal dysplasia NCIT:C84684 OMIM:225500 Orphanet:289 SCTID:62501005 UMLS:C0013903 UMLS:CN239258 https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome mesodermic dysplasia rare syndrome with cardiac malformations syndromic urogenital tract malformation Jeune syndrome ectodermal dysplasia syndrome syndromic renal or urinary tract malformation