Ellis-Van Creveld Syndrome (EVC)

Ellis-Van Creveld Syndrome, also known as chondroectodermal dysplasia, is related to weyers acrofacial dysostosis and short-rib thoracic dysplasia 7 with or without polydactyly. An important gene associated with Ellis-Van Creveld Syndrome is EVC2 (EvC Ciliary Complex Subunit 2), and among its related pathways/superpathways are Signal Transduction and Organelle biogenesis and maintenance. Affiliated tissues include bone and heart, and related phenotypes are failure to thrive and abnormality of the dentition