Why does Ellis-van Creveld Syndrome occur with the Amish?

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2026-05-01 04:40

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Ellis-van Creveld Syndrome occurs with higher frequency in the Amish population due to their practice of limited genetic diversity and a relatively small gene pool. This autosomal recessive condition is caused by mutations in the EVC and EVC2 genes, which can be more prevalent in isolated communities where intermarriage occurs. The Amish often have large families, which can increase the chances of recessive genetic disorders manifesting in offspring. Consequently, the syndrome is more commonly observed in this community compared to the general population.

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