Ellis-van Creveld syndrome

Definition

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.

Also known as Chondroectodermal dysplasia, Ellis Van Creveld Syndrome, Ellis-VAN Creveld syndrome, EVC, mesodermic dysplasia, Mesoectodermal dysplasia — per MONDO

Also identified as

• DOID 12714 per MONDO
• ICD10CM Q77.6 per MONDO
• ICD9 756.55 per MONDO
• MESH D004613 per MONDO
• NCIT C84684 per MONDO
• OMIM 225500 per MONDO
• Orphanet 289 per MONDO
• SCTID 62501005 per MONDO
• UMLS C0013903 per MONDO