Gene found for Ellis-Van Creveld

[Guest guest]

Dr Morton'r quote

" They simply accept people with the syndrome as part of the culture " so

the Amish would not do prenatal testing has a disturbing undertone.

Shouldn't everyone accept dwarfism as part of their culture?

Researchers find gene for dwarfism in Amish babies

March 1, 2000

Web posted at: 4:23 PM EST (2123 GMT)

Scientists have located the gene associated with a form of dwarfism and

related birth defects most commonly seen in the Amish.

The scientists found that mutations in the gene trigger Ellis-Van Creveld

Syndrome, causing skeletal deformities during an embryo's early stages.

Researchers said that locating the gene and understanding how it mutates

will help explain the basics of human growth and movement.

The study by researchers in the United States and Europe appears in the

March issue of the journal Nature Genetics.

The discovery highlights a growing collaboration between scientists and

the Old Order Amish of Lancaster County, Pa. Researchers traced 50 cases

of Ellis-Van Creveld in Lancaster County to a couple who emigrated to

eastern Pennsylvania in 1744.

Ellis-Van Creveld was first described by doctors in 1940. It is most

commonly seen in Old Order Amish, whose religious beliefs require them to

live apart from modern society, and other closed cultures that intermarry.

Babies born with the disorder are characterized by dwarfism, shortened

limbs, extra fingers and toes and mouth deformities. At least half develop

holes between the upper chambers of their hearts. Many of the problems can

be surgically corrected, but there is no cure for the condition.

The gene's identification provides the basis for premarital and prenatal

testing. But Amish couples would probably not submit to such tests because

of their strict religious beliefs and marriage customs.

" They simply accept people with the syndrome as part of the culture, " said

Dr. Holmes Morton, who runs the Clinic for Special Children for the Amish

in Strasburg, Pa.