Ellis-van Creveld syndrome
Illustrations
Alternative names
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Chondroectodermal dysplasia
Definition
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Ellis-van Creveld syndrome is an inherited disorder with multiple abnormalities and dwarfism.
Causes, incidence, and risk factors
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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.
Symptoms
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Signs and tests
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- Skeletal x-ray may show fusion of wrist bones, cone shaped fingertips
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Echocardiogram
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Urinalysis
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Chest X-ray showing short ribs
- Ultrasound may locate an undescended testicle
- Genetic testing may be available for mutations in the EVC gene
Treatment
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Treatment depends on which body system is involved and to what extent that body system is involved. The condition itself is not treatable, but many of the complications can be treated.
Support Groups
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Ellis van Creveld Support Group
17 Bridlewood Trail
Honeoye Falls, NY 14472
585.624.8277
olesikjt@hotmail.com
Expectations (prognosis)
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The outcome depends on which body system is involved and to what extent that body system is involved.
Complications
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Calling your health care provider
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Call your health care provider if your child exhibits a collection of some of the above described symptoms. If your family history is positive for Ellis-van Creveld syndrome and your child has any of the above symptoms, a visit to your health care provider is appropriate.
Prevention
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Genetic counseling is recommended for prospective parents with any family history of Ellis-van Creveld syndrome.
Update Date: 8/27/2003
Updated by: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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