Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical Ellis-van Creveld syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Oral manifestations tend to be pathognomonic such as multiple broad labial frenula and congenital missing teeth. Hematologic abnormalities have been rarely reported in patients with Ellis-van Creveld syndrome. Ellis-van Creveld syndrome and Jeune's asphyxiating thoracic dystrophy are related disorders. Some patients have overlapping features of both disorders, indicating that these syndromes may be a part of a disease spectrum.
Mutations in the EVC and EVC2 genes have been reported in many individuals with Ellis-van Creveld syndrome.