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Ellis-Van Creveld Syndrome
Alternate Names : Chondroectodermal Dysplasia
Definition Ellis-van Creveld syndrome is an inherited disorder with multiple abnormalities and dwarfism.
Pictures & Images
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Tuberculosis in the Kidney
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Tuberculosis in the Lung
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Pneumococci Organism
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Female Urinary Tract
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Male Urinary Tract
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Melanoma of the Liver - CT Scan
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Skin Cancer, Raised Multi-Color Melanoma
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Skin Cancer, Melanoma - Flat, Brown Lesion
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Skin Cancer, Melanoma - Raised, Dark Lesion
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Polydactyly - An Infant's Hand
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Acne - Close-Up of Pustular Lesions
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Acne, Cystic on the Chest
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Acne, Cystic on the Face
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Acne, Vulgaris on the Back
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Skin Cancer, Melanoma on the Fingernail
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Skin Cancer, Close-Up of Lentigo Maligna Melanoma
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Skin Cancer, Close-Up of Level III Melanoma
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Skin Cancer, Close-Up of Level IV Melanoma
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Skin Cancer, Melanoma Superficial Spreading
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Ascaris Lumbricoides Egg
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Acne, Close-Up of Cysts on the Back
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Acne, Cystic on the Back
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Drug Rash on the Back
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Overview, Causes, & Risk Factors
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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• Definition
• Overview, Causes, & Risk Factors
• Symptoms & Signs
• Prevention
• Diagnosis & Tests
• Treatment
• Prognosis
• Complications
• Support Groups
• Calling Your Health Care Provider
• Pictures & Images
Review Date : 8/27/2003
Reviewed 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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