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Ellis-van Creveld syndrome

rare

Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

Identifiers
MONDO:0009162 OMIM:225500Orphanet:289
Part of
Jeune syndromeAutosomal recessive diseaseCardiogenetic diseaseEctodermal dysplasia syndrome
Also known as
Chondroectodermal dysplasia · Ellis Van Creveld Syndrome · EVC · mesodermic dysplasia · Mesoectodermal dysplasia

Subtypes

All diseases Rare only
Disease Subtypes
Jeune syndrome situs inversus

Rare disease

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