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Ellis-van Creveld syndrome

Reviewed May 2008

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), unusually formed nails and teeth, and heart defects.

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?

Mutations in the EVC and EVC2 genes cause Ellis-van Creveld syndrome. Researchers have not determined the functions of these genes, but they have identified mutations in both genes that can cause Ellis-van Creveld syndrome. Most of these mutations result in the production of abnormally small, nonfunctional versions of the EVC or EVC2 protein. How mutations in these genes lead to dwarfism and the other features of Ellis-van Creveld syndrome remains unclear.

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.

Although most people with Ellis-van Creveld syndrome have mutations in both copies of the EVC or EVC2 gene in each cell, some affected people have only one mutated copy of the gene in each cell. Researchers believe that as-yet unidentified mutations in the EVC or EVC2 gene, or mutations in other genes, may be associated with Ellis-van Creveld syndrome in these cases.

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.

  • Gene Tests: EVC2-Related Ellis-van Creveld Syndrome (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/319128)
  • Gene Tests: EVC-Related Ellis-van Creveld Syndrome (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/319127)
  • 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://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome/show/Patient+support).

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.

  • MedlinePlus - Health information

    • Encyclopedia: Congenital Heart Disease (http://www.nlm.nih.gov/medlineplus/ency/article/001114.htm)
    • Encyclopedia: Ellis-van Creveld syndrome (http://www.nlm.nih.gov/medlineplus/ency/article/001667.htm)
    • Encyclopedia: Polydactyly (http://www.nlm.nih.gov/medlineplus/ency/article/003176.htm)
    • Health Topic: Dwarfism (http://www.nlm.nih.gov/medlineplus/dwarfism.html)
  • Additional NIH Resources - National Institutes of Health
    National Center for Biotechnology Information: Genes and Disease (http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.162)

  • Educational resources - Information pages

    • Nemours Foundation (http://www.nemours.org/service/medical/orthopedics/dysplasia/ellisvancreveld.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=289)

  • Patient support - For patients and families

    • Family Village: Growth Disorders (http://www.familyvillage.wisc.edu/lib_grow.htm)
    • Human Growth Foundation (http://www.hgfound.org/)
    • International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center (http://www.cedars-sinai.edu/Patients/Programs-and-Services/Skeletal-Dysplasia/)
    • Little People of America, Inc. (http://www.lpaonline.org/)
    • National Organization for Rare Disorders (http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/902/viewAbstract)
    • Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/skeldysp.html)

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

  • Gene Tests - DNA tests ordered by healthcare professionals

    • Gene Tests: EVC2-Related Ellis-van Creveld Syndrome (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/319128)
    • Gene Tests: EVC-Related Ellis-van Creveld Syndrome (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/319127)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/ct2/results?cond=%22Ellis-van%20Creveld%20syndrome%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(Ellis-Van%20Creveld%20Syndrome%5BMAJR%5D)%20AND%20(Ellis-van%20Creveld%20syndrome%5BTIAB%5D)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/225500)

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

  • Chondroectodermal 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 ; gene ; mutation ; polydactyly ; population ; prevalence ; protein ; recessive ; short stature ; sign ; stature ; symptom ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://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)
  • 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)
  • 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)

 

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: May 2008
Published: May 21, 2012