Saturday, May 26, 2012

Ellis-van Creveld syndrome

Table of Contents

Definition

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


Alternative Names

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.



Review Date: 08/11/2009
Reviewed By: Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed HealthcareNetwork. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)