Alternate Names : Chondroectodermal dysplasia, EVC
Definition
Ellis-van Creveld syndrome is a rare genetic disorder that affects bone growth.
Overview, Causes, & 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.
Pictures & Images
Polydactyly – an infant’s hand
Extra digits may be present as an isolated finding, or they may occur as part of a syndrome, in which case other abnormalities are usually present. The most common form of polydactyly is an extra little finger.
Chromosomes and DNA
Humans have 46 chromosomes. There are a total of 23 pairs of chromosomes or 46 total chromosomes. Chromosomes are made up of long strands of DNA which contain all the body�s genes.
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Ellis-van Creveld syndrome : Overview, Causes, & Risk Factors
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Ellis-van Creveld syndrome : Symptoms & Signs, Diagnosis & Tests
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Ellis-van Creveld syndrome : Treatment
Review Date : 8/11/2009
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.
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