Ellis-van Creveld syndrome

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Ellis-van Creveld syndrome

Ellis-van Creveld syndrome is an inherited disorder with multiple abnormalities and dwarfism.

Ellis-van Creveld is inherited as an autosomal recessive trait. It results from mutations in one of two Ellis van Creveld syndrome genes (EVC and EVC2). It is unknown what function these genes perform. Interestingly, the two genes lie next to each other on chromsome 4. It is unclear how this unusual arrangement affects the presentation of the syndrome.

The severity of the disease varies from person to person, but one of the striking features is shortening of the parts of the limbs furthest from the trunk. Higher incidence of the condition is seen among the Amish.

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