Ellis-Van Creveld syndrome

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 ch

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.

Signs and symptoms

• Delayed eruption of teeth
• Nail dysplasia
• Disproportionate short-limb short stature
• Dandy-Walker malformation
• Cone-shaped epiphyses of phalanges 2 to 5
• Genu valgum
• Abnormal alveolar ridge morphology
• Narrow chest
• Short ribs
• Epispadias

Also known as: Chondroectodermal dysplasia; mesoectodermal dysplasia