Skip Navigation
About   Site Map   Contact Us
A service of the U.S. National Library of Medicine®
Printer-friendly version
Ellis-van Creveld syndrome
 Quick links to this topic
 Health information
 National Institutes of Health
 Information pages
 For patients and families
 Recent literature
 Genetic disorder catalog

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.

Read more about the EVC and EVC2 genes.

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 treatment for Ellis-van Creveld syndrome?

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

You might also find information on treatment of Ellis-van Creveld syndrome in Educational resources and Patient support.

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

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

Where can I find general information about genetic conditions?

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.

See also Understanding Medical Terminology.

References (6 links)


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? in the Handbook.

Reviewed: May 2008
Published: May 4, 2009