The Unexpectedly High Frequency of Ellis-van Creveld Syndrome Among the 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 syndrome is an abnormality in the development and growth of the legs, teeth, heart and other organs. It can also cause short stature and polydactyly. EvC syndrome’s gene mutation is autosomal recessive. This means that the parents of the child must also be carriers. EvC can typically be diagnosed through genetic testing. It is possible to do this prenatally, or 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 syndrome may be exacerbated by their old lifestyle which restricts their access to medical technology and treatment (Konrad, 2021).

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