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Ellis-van Creveld Syndrome

  • Reference work entry
Atlas of Genetic Diagnosis and Counseling

  • 230 Accesses

In 1940, Ellis and van Creveld described a syndrome, characterized by ectodermal dysplasia, polydactyly, chondrodysplasia, and congenital heart disease. Ellis-van Creveld syndrome, also called chondroectodermal dysplasia, is relatively common in inbred communities, such as the Amish of Lancaster County where it occurs in 1/5,000 births compared to 1/60,000 births in the general population.

Synonyms and Related Disorders

Chondroectodermal dysplasia

Genetics/Basic defects

  1. 1.

    Inheritance

    1. a.

      Autosomal recessive inheritance

    2. b.

      Parental consanguinity in 30% of cases

  2. 2.

    Basic defect (Arya et al. 2001)

    1. a.

      Generalized dysplasia of endochondral ossification

      1. i.

        Delayed in the primary centers

      2. ii.

        Premature in the secondary centers

      3. iii.

        Leads to short stature with progressive distal shortening of the extremities

    2. b.

      Caused by mutations in a novel gene, EVC1, which is mapped to chromosome 4p16.1 (Ruiz-Perez et al. 2000)

    3. c.

      Caused by mutations in a second gene, called EVC2, that gives rise to the...

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References

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Editor information

Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Ellis-van Creveld Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_79

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