Ellis-Van Creveld syndrome (DOID:12714)
Alliance: disease page
Synonyms: Chondroectodermal dysplasia; mesoectodermal dysplasia
Alt IDs: OMIM:225500, ICD10CM:Q77.6, ICD9CM:756.55, MESH:D004613, NCI:C84684, UMLS_CUI:C0013903
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.