How common is Ellis-van Creveld syndrome?

How common is Ellis-van Creveld syndrome?

In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence because the disorder is very rare in the general population.

How is EVC syndrome treated?

Ellis van Creveld syndrome (EVC) is a rare form of skeletal dysplasia that effects approximately 1 in 150,000 people, though it is more common in certain ethnic and racial groups, such as the American Amish. Treatment of symptoms may include monitoring and surgery by doctors who specialize in skeletal dysplasia.

How common is polydactyly in Amish?

One form of dwarfism, Ellis-van Creveld syndrome, involves not only short stature but polydactyly (extra fingers or toes), abnormalities of the nails and teeth, and, in about half of individuals, a hole between the two upper chambers of the heart. The syndrome is common in the Amish because of the “founder effect.”

Who discovered Ellis-van Creveld syndrome?

History. The disorder was described by Richard W. B. Ellis (1902–1966) of Edinburgh and Simon van Creveld (1895–1971) of Amsterdam. Each had a patient with this syndrome, as they had discovered when they met in the same train compartment on the way to a pediatrics conference in England in the late 1930s.

What is Chondroectodermal dysplasia?

Chondroectodermal dysplasia is a genetic, autosomal recessive condition, meaning a child receives an abnormal gene from each parent. The defect results in a problem that occurs when the cartilage converts to bone while growing.

What is EVC medical term?

External cephalic version, or version, is a procedure used to turn a fetus from a breech position or side-lying (transverse) position into a head-down (vertex) position before labor begins.

What is EVC in cardiology?

The Ellis–Van Creveld (EVC) syndrome is characterized by acromelic limb shortening, polydactyly primarily of the hands, and ectodermal dysplasia involving the nails, teeth, and gums. Congenital heart disease is present in approximately 50% of patients, most commonly as a single atrium with a cleft mitral valve.

Is dwarfism common in Amish?

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.

Do Amish have genetic disorders?

Health among the Amish is characterized by higher incidences of particular genetic disorders, especially among the Old Order Amish. These disorders include dwarfism, Angelman syndrome, and various metabolic disorders, such as Tay-Sachs disease, as well as an unusual distribution of blood types.