Ellis-Van Creveld Syndrome

Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in short stature (dwarfism). People with this condition have particularly short forearms and lower legs and 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.

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

• Chondroectodermal Dysplasia

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 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 the EVC and EVC2 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 proteins. How mutations in these genes lead to dwarfism and 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.

External Links

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.

• MedlinePlus Encyclopedia: Congenital Heart Disease
• MedlinePlus Encyclopedia: Ellis-van Creveld syndrome
• MedlinePlus Encyclopedia: Polydactyly

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.

• MedlinePlus - Health information (4 links)
• Additional NIH Resources - National Institutes of Health National Center for Biotechnology Information: Genes and Disease
• Educational resources - Information pagesOrphanet
• Patient support - For patients and families (5 links)

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

• PubMed - Recent literature
• OMIM - Genetic disorder catalog

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

• See How can I find a genetics professional in my area? in the Handbook.
• Ask the Genetic and Rare Diseases Information Center.
• Submit your question to Ask the Geneticist.

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

• What does it mean if a disorder seems to run in my family?
• What are the different ways in which a genetic condition can be inherited?
• If a genetic disorder runs in my family, what are the chances that my children will have the condition?
• Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.

• Genetics and health
• Resources for Patients and Families
• Resources for Health Professionals

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

autosomal ; autosomal recessive ; cell ; dysplasia ; gene ; mutation ; polydactyly ; population ; prevalence ; protein ; recessive ; sign ; stature ; symptom ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.