Ellis Van Creveld Syndrome

Inherited genetic disorder prevalent in Amish people

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.