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Ellis-van Creveld syndrome
Alternative namesChondroectodermal dysplasia
DefinitionEllis-van Creveld syndrome is an inherited disorder with multiple abnormalities and dwarfism .
Causes, incidence, and risk factors
Ellis-van Creveld is inherited as an autosomal recessive trait. It results from mutations in one of two Ellis van Creveld syndrome genes (EVC and EVC2). It is unknown what function these genes perform. Interestingly, the two genes lie next to each other on chromsome 4. It is unclear how this unusual arrangement affects the presentation of the syndrome.
The severity of the disease varies from person to person, but one of the striking features is shortening of the parts of the limbs furthest from the trunk. Higher incidence of the condition is seen among the Amish.
Signs and tests
TreatmentTreatment depends on which body system is involved and to what extent that body system is involved. The condition itself is not treatable, but many of the complications can be treated.
Support GroupsEllis van Creveld Support Group
17 Bridlewood Trail
Honeoye Falls, NY 14472
Expectations (prognosis)The outcome depends on which body system is involved and to what extent that body system is involved.
Calling your health care providerCall your health care provider if your child exhibits a collection of some of the above described symptoms. If your family history is positive for Ellis-van Creveld syndrome and your child has any of the above symptoms, a visit to your health care provider is appropriate.
PreventionGenetic counseling is recommended for prospective parents with any family history of Ellis-van Creveld syndrome.
Update Date: 8/27/2003Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT