Term Name:	Ellis-Van Creveld syndrome
Synonyms:	Chondroectodermal dysplasia, mesoectodermal dysplasia
Definition:	A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2.
Ontology:	Human Disease [DOID:12714]   ( DOID:12714 )