Definition of Ellis-van Creveld syndrome:

Ellis-van Creveld syndrome is a rare genetic disorder that affects bone growth. The main features include growth hormone deficiency with shortening of the parts of the limbs farthest from the middle of the body.

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.