Ellis–van Creveld syndrome

Also known as: Chondroectodermal dysplasia

Skeletal dysplasia with polydactyly, ectodermal dysplasia and common atrium.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, congenital
Gene(s) involved: EVC, EVC2

Etiology & mechanism

Defective hedgehog signaling from EVC or EVC2.

Gene(s) involved (2)

EVCEVC2

Symptoms & signs (8)

atrial septal defectcommon atriumdystrophic nailsnatal teethpolydactylyrespiratory distressshort limbsshort ribs

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.