Ellis-van Creveld syndrome
Definition
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; EVCCauses
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.
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