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Ellis Van Creveld Syndrome

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Dr. Genevieve Baujat, MD, Centre de Reference for Skeletal Dysplasia and Department of Medical Genetic, Hopital Necker, Paris, France, for assistance in the preparation of this report.

Synonyms of Ellis Van Creveld Syndrome

  • chondroectodermal dysplasia
  • EVC
  • mesoectodermal dysplasia

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Ellis-Van Creveld syndrome is a rare genetic disorder characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. Motor development and intelligence are normal. This disorder is inherited as an autosomal recessive condition.

Organizations related to Ellis Van Creveld Syndrome

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