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Ellis-van Creveld syndrome

Definition

Ellis-van Creveld syndrome is a rare genetic disorder that affects bone growth.

Alternative Names

Chondroectodermal dysplasia; EVC

Causes

Ellis-van Creveld is passed down through families (inherited). It is caused by defects in one of two Ellis-van Creveld syndrome genes (EVC and EVC2) that are positioned next to each other on the same chromosome.

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. It is fairly rare in the general population.

Symptoms

Exams and Tests

Signs of this condition include:

Tests include:

Treatment

Treatment depends on which body system is affected and the severity of the problem. The condition itself is not treatable, but many of the complications can be treated.

Support Groups

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)

Many babies with this condition die in early infancy, usually due to a small chest or heart defect. Stillbirth is common.

The outcome depends on which body system is involved and to what extent that body system is involved. Like many genetic conditions involving bones or the physical structure, intelligence is normal.

Possible Complications

When to Contact a Medical Professional

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 symptoms, visit your health care provider.

Genetic counseling can help families understand the condition and how to care for the patient.

Prevention

Genetic counseling is recommended for prospective parents from a high-risk group, or who have a family history of Ellis-van Creveld syndrome.

References

Horton WA, Hecht JT. Disorders for which defects are poorly understood or unknown. In: Kliegman RM, Stanton BF, St. Geme III JW, Shor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 691.


Review Date: 9/8/2013
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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