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Genetics Home Reference: your guide to understanding genetic conditions
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Ellis-van Creveld syndrome

Reviewed December 2012

What is Ellis-van Creveld syndrome?

Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems.

The features of Ellis-van Creveld syndrome overlap with those of another, milder condition called Weyers acrofacial dysostosis. Like Ellis-van Creveld syndrome, Weyers acrofacial dysostosis involves tooth and nail abnormalities, although affected individuals have less pronounced short stature and typically do not have heart defects. The two conditions are caused by mutations in the same genes.

How common is Ellis-van Creveld syndrome?

In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence because the disorder is very rare in the general population. This condition is much more common in the Old Order Amish population of Lancaster County, Pennsylvania, and in the indigenous (native) population of Western Australia.

What genes are related to Ellis-van Creveld syndrome?

Ellis-van Creveld syndrome can be caused by mutations in the EVC or EVC2 gene. Little is known about the function of these genes, although they appear to play important roles in cell-to-cell signaling during development. In particular, the proteins produced from the EVC and EVC2 genes are thought to help regulate the Sonic Hedgehog signaling pathway. This pathway plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body.

The mutations that cause Ellis-van Creveld syndrome result in the production of an abnormally small, nonfunctional version of the EVC or EVC2 protein. It is unclear how the defective proteins lead to the specific signs and symptoms of this condition. Studies suggest that they prevent normal Sonic Hedgehog signaling in the developing embryo, disrupting the formation and growth of the bones, teeth, and other parts of the body.

Together, mutations in the EVC and EVC2 genes account for more than half of all cases of Ellis-van Creveld syndrome. The cause of the remaining cases is unknown.

Related Gene(s)

Changes in these genes are associated with Ellis-van Creveld syndrome.

  • EVC
  • EVC2

How do people inherit Ellis-van Creveld syndrome?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of Ellis-van Creveld syndrome?

These resources address the diagnosis or management of Ellis-van Creveld syndrome and may include treatment providers.

  • Genetic Testing Registry: Chondroectodermal dysplasia (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0013903)
  • MedlinePlus Encyclopedia: Congenital Heart Disease (http://www.nlm.nih.gov/medlineplus/ency/article/001114.htm)
  • MedlinePlus Encyclopedia: Ellis-van Creveld Syndrome (http://www.nlm.nih.gov/medlineplus/ency/article/001667.htm)
  • MedlinePlus Encyclopedia: Polydactyly (http://www.nlm.nih.gov/medlineplus/ency/article/003176.htm)

You might also find information on the diagnosis or management of Ellis-van Creveld syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Ellis-van Creveld syndrome?

You may find the following resources about Ellis-van Creveld syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Ellis-van Creveld syndrome?

  • chondroectodermal dysplasia
  • Ellis-van Creveld dysplasia

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Ellis-van Creveld syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Ellis-van Creveld syndrome?

autosomal ; autosomal recessive ; cell ; dwarfism ; dysplasia ; embryo ; gene ; inherited ; polydactyly ; population ; prevalence ; protein ; recessive ; short stature ; stature ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Baujat G, Le Merrer M. Ellis-van Creveld syndrome. Orphanet J Rare Dis. 2007 Jun 4;2:27. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17547743?dopt=Abstract)
  • Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H, Egeland JA, Ginns EI. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Genet Metab. 2002 Dec;77(4):291-5. (http://www.ncbi.nlm.nih.gov/pubmed/12468274?dopt=Abstract)
  • Hills CB, Kochilas L, Schimmenti LA, Moller JH. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol. 2011 Oct;32(7):977-82. doi: 10.1007/s00246-011-0006-9. Epub 2011 May 1. (http://www.ncbi.nlm.nih.gov/pubmed/21533779?dopt=Abstract)
  • McKusick VA. Ellis-van Creveld syndrome and the Amish. Nat Genet. 2000 Mar;24(3):203-4. (http://www.ncbi.nlm.nih.gov/pubmed/10700162?dopt=Abstract)
  • O'Connor MJ, Collins RT 2nd. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol. 2012 Apr;33(4):491; discussion 491-2. doi: 10.1007/s00246-012-0155-5. (http://www.ncbi.nlm.nih.gov/pubmed/22286269?dopt=Abstract)
  • Ruiz-Perez VL, Goodship JA. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):341-51. doi: 10.1002/ajmg.c.30226. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19876929?dopt=Abstract)
  • Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet. 2000 Mar;24(3):283-6. Erratum in: Nat Genet 2000 May;25(1):125. (http://www.ncbi.nlm.nih.gov/pubmed/10700184?dopt=Abstract)
  • Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet. 2003 Mar;72(3):728-32. Epub 2003 Feb 4. (http://www.ncbi.nlm.nih.gov/pubmed/12571802?dopt=Abstract)
  • Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, Wright MJ, Goodship JA. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum Genet. 2007 Jan;120(5):663-70. Epub 2006 Sep 21. (http://www.ncbi.nlm.nih.gov/pubmed/17024374?dopt=Abstract)
  • Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-Ajlouni O, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, Ruiz-Perez VL. Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Hum Mutat. 2009 Dec;30(12):1667-75. doi: 10.1002/humu.21117. (http://www.ncbi.nlm.nih.gov/pubmed/19810119?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2012
Published: October 20, 2014