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Ellis-van Creveld syndrome

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

Causes

Ellis-van Creveld is passed down through families (inherited). It is caused by defects in 1 of 2 Ellis-van Creveld syndrome genes (EVC and EVC2). These genes 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

Symptoms may include:

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 EVC 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. Most often this is 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

Complications may include:

When to Contact a Medical Professional

Call your provider if your child has symptoms of this syndrome. If you have a family history of EVC syndrome and your child has any symptoms, visit your provider.

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

Prevention

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

Alternative Names

Chondroectodermal dysplasia; EVC

References

Chitty LS, Wilson LC, Ushakov F. Diagnosis and management of fetal skeletal abnormalities. In: Pandya PP, Oepkes D, Sebire NJ, Wapner RJ, eds. Fetal Medicine: Basic Science and Clinical Practice. 3rd ed. Philadelphia, PA: Elsevier; 2020:chap 34.

Hecht JT, Horton WA. Other inherited disorders of skeletal development. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 720.

Review Date 7/29/2019

Updated by: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.