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Alternative Names Return to topChondroectodermal dysplasia; EVC
Definition Return to top
Ellis-van Creveld syndrome is a rare genetic disorder that affects bone growth. The main features include growth hormone deficiency with shortening of the parts of the limbs farthest from the middle of the body.
Causes Return to top
Ellis-van Creveld is inherited as an autosomal recessive trait. It results from defects in one of two Ellis van Creveld syndrome genes (EVC and EVC2). The two genes lie next to each other on chromosome 4. It is unclear how this unusual arrangement affects the presentation of the syndrome.
The severity of the disease varies from person to person. The highest rate of the condition is seen among the Old Order Amish population of Lancaster County, Pennsylvania.
Symptoms Return to top
Exams and Tests Return to top
Treatment Return to top
Treatment depends on which body system is affected and how severe the problem is. The condition itself is not treatable, but many of the complications can be treated.
Support Groups Return to top
Many communities have Ellis-van Creveld support groups. Ask your health care provider or local hospital if there is one in your area.
Outlook (Prognosis) Return to top
The outcome depends on which body system is involved and to what extent that body system is involved.
Possible Complications Return to top
When to Contact a Medical Professional Return to top
Call your health care provider if your child has symptoms of this syndrome. If you have a family history of Ellis-van Creveld syndrome and your child has any of the above symptoms, a visit to your health care provider is appropriate.
Prevention Return to top
Genetic counseling is recommended for prospective parents with any family history of Ellis-van Creveld syndrome.Update Date: 6/24/2007 Updated by: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospitalof Philadelphia, Philadelphia, PA. Review provided by VeriMed HealthcareNetwork.