Ellis-van Creveld syndrome
Ellis-van Creveld syndrome is a rare genetic disorder that affects bone growth.
Chondroectodermal dysplasia; EVC
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 may include:
Exams and Tests
Signs of this condition include:
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.
Many communities have EVC support groups. Ask your health care provider or local hospital if there is one in your area.
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.
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.
Genetic counseling is recommended for prospective parents from a high-risk group, or who have a family history of EVC syndrome.
Horton WA, Hecht JT. Disorders for which defects are poorly understood or unknown. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 700.
Reviewed By:Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, 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.
The Agency for Health Care Administration (Agency) and this website do not claim the information on, or referred to by, this site is error free. This site may include links to websites of other government agencies or private groups. Our Agency and this website do not control such sites and are not responsible for their content. Reference to or links to any other group, product, service, or information does not mean our Agency or this website approves of that group, product, service, or information.
Additionally, while health information provided through this website may be a valuable resource for the public, it is not designed to offer medical advice. Talk with your doctor about medical care questions you may have.