Rare Diseases

  1. Home
  2. Health
  3. Rare Diseases

Ellis Van Creveld Syndrome

Inherited genetic disorder prevalent in Amish people

By Mary Kugler, R.N., About.com

Updated: March 09, 2005

About.com Health's Disease and Condition content is reviewed by our Medical Review Board

Ellis Van Creveld syndrome is an inherited disorder due to an error on Chromosome 4. In the general population, it occurs about once in every 60,000 live births. The genetic error is prevalent among people who are Old Order Amish. Ellis Van Creveld syndrome occurs in as many as 5 of 1,000 live births in their communities.

Symptoms
The symptoms of Ellis Van Creveld syndrome are usually apparent at birth. These include:

  • Short stature - adults average about 109-155 cm tall (just under 4 feet to about 5'3")
  • Short forearms and legs
  • Extra fingers and toes
  • Narrow chest with short ribs
  • Malformed pelvis
About 50-60% of people with Ellis Van Creveld syndrome have a heart defect.

Treatment
Diagnosis is usually made based on the physical signs and symptoms present at birth. Treatment consists of care for physical problems. A heart defect may be repaired surgically. Orthopedic surgery can correct some bone malformations, such as extra fingers.

Because of the small chest, a child with Ellis Van Creveld syndrome may get respiratory infections such as pneumonia more often, and may have a more difficult time recovering from illnesses. Unfortunately, about 50% of children with Ellis Van Creveld syndrome die in early infancy because of heart or respiratory problems.

Information for this article was taken from:
Laufer-Cahana, A. (2002). Ellis-van Creveld syndrome. eMedicine, accessed at http://www.emedicine.com/ped/topic660.htm.

Explore Rare Diseases

About.com Special Features

Do I Have Allergies?

Are your symptoms merely irritating, or could they be a sign of allergies? More >

Preventing Headaches

The best way to treat a headache is to prevent it. Learn how. More >

We comply with the HONcode standard for trustworthy health information: verify here.

Rare Diseases

  1. Home
  2. Health
  3. Rare Diseases
  4. Rare Diseases A - Z
  5. Rare Diseases: E
  6. Ellis Van Creveld Syndrome

©2009 About.com, a part of The New York Times Company.

All rights reserved.