Ellis van Creveld syndrome

(redirected from chondrodysplasia ectodermica)

Ellis van Creveld syndrome

A rare autosomal dominant condition (OMIM:225500) often caused by a so-called founder effect, which is characterised by dental defects, nail dystrophy, postaxial polydactyly, short-limbed dwarfism, normal intelligence and atrial septal defect resulting in a common atrium (occurs in 60% of affected individuals). Ellis van Creveld and Weyers syndrome may coexist within pedigrees.

Management
Surgery for polydactyly; dental surveillance in the first decade of life.

Molecular pathology
Mutation of EVC on chromosome 4p16.2.
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