Ellis-van Creveld syndrome is a rare genetic disorder that affects bone growth.
Chondroectodermal dysplasia; EVC
Causes, incidence, and risk factors
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 next to each other.
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.
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.
Genetic counseling is recommended for prospective parents from a high-risk group, or who have a family history of Ellis-van Creveld syndrome.
Chad Haldeman-Englert, MD, 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, Medical Director, A.D.A.M., Inc.