Among the Old Order Amish in the US, Ellis-van Creveld syndrome, an autosomal recessive disorder, is at a much higher frequency than that observed among other groups of European descent. Please discuss the disease, genetics, testing, and treatment options. What factors, coupled with this population’s social and religious isolation, most likely accounts for this elevated frequency? The Unexpectedly High Frequency of Ellis-van Creveld Syndrome Among the Old Order Amish

Ellis-van Creveld Syndrome is a rare and unanticipatedly common condition among Old Order Amish
Ellis-van Creveld syndrome (EvC), is an autosomal dominant disorder that only 1 in 65,000 Europeans are affected. EvC is more common among Old Order Amish people in the US. 1 in 4000 are carriers of the genetic mutation. EvC affects growth and development in the limbs and teeth. EvC syndrome’s gene mutation is autosomal recessive. This means that the parents of the child must also be carriers. EvC syndrome can usually be diagnosed by genetic testing. This test is available prenatally and postnatally. There is no cure, but treatment options include the management of symptoms, which can include orthopedic surgery and physical therapy. EvC syndrome is more common among Old Order Amish due to their religious and social isolation. This leads to intermarriage and limited access to genetic testing. EvC may also be due to their limited exposure to new medical technologies. Cont….
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