Ellis-van Creveld syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Tuberculosis in the kidney

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Ascaris lumbricoides egg

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Drug rash on the back

Ellis-van Creveld syndrome

Definition:

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

Alternative Names:

Chondroectodermal dysplasia

Causes, incidence, and 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.

Symptoms:

Stillbirth (common)
Death in early infancy (common)
Dwarfism
Short extremities, especially forearm and lower leg
Hair abnormalities: sparse, absent, fine texture
Cleft lip or palate
Tooth abnormalities:
- Peg teeth
- Widely spaced teeth
- Teeth present at birth (natal teeth)
- Teeth - delayed or absent formation
Nail abnormalities: absent nails, deformed nails
Joint abnormalities: limited range of motion
Extra fingers (polydactyly)
Epispadias or an undescended testicle (cryptorchidism)
Congenital heart defects such as "hole in the heart" atrial septal defect (ASD)

Signs and tests:

Skeletal x-ray may show fusion of wrist bones, cone shaped fingertips
Echocardiogram
Urinalysis
Chest X-ray showing short ribs
Ultrasound may locate an undescended testicle
Genetic testing may be available for mutations in the EVC gene

Treatment:

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:

Ellis van Creveld Support Group
17 Bridlewood Trail
Honeoye Falls, NY 14472
585.624.8277
olesikjt@hotmail.com

Expectations (prognosis):

The outcome depends on which body system is involved and to what extent that body system is involved.

Complications:

Breathing difficulty
Congenital heart disease (CHD) especially an atrial septal defect (ASD)
Kidney disease
Bone abnormalities

Calling your health care provider:

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:

Genetic counseling is recommended for prospective parents with any family history of Ellis-van Creveld syndrome.

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