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Ellis-van Creveld syndrome - Overview

Alternative Names

Chondroectodermal dysplasia; EVC

Definition of Ellis-van Creveld syndrome:

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

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.

  • Reviewed last on: 8/4/2011
  • 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.
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