Ellis-van Creveld syndrome is a rare genetic disorder that affects bone growth. The main features include dwarfism with shortening of the parts of the limbs farthest from the middle of the body.
Alternative Names:
Chondroectodermal dysplasia; EVC
Causes, incidence, and risk factors:
Ellis-van Creveld is inherited as an autosomal recessive trait. It results from defects in one of two Ellis van Creveld syndrome genes (EVC and EVC2). The two genes lie next to each other on chromosome 4. It is unclear how this unusual arrangement affects the presentation of the syndrome.
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.
Genetic testing may be available for mutations in the EVC gene
Review Date: 6/24/2007
Reviewed By: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospitalof Philadelphia, Philadelphia, PA. Review provided by VeriMed HealthcareNetwork.
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Neonatology
