Citation
Ellis-van Creveld Syndrome and the Amish
TL;DR
Ellis-van Creveld syndrome 300-1000x more common in Lancaster Amish
Classic paper documenting the founder effect for Ellis-van Creveld syndrome in the Lancaster County Amish. The condition occurs in 1 in 200 births (versus 1 in 60,000-200,000 globally), traced to Samuel King and his wife who immigrated to Pennsylvania in 1744.
Shows how traits from a small founding population can persist at dramatically elevated frequency for centuries, relevant to understanding why organizational 'founding DNA' can be so persistent.
Key Findings from McKusick & al. (1962)
- Ellis-van Creveld syndrome 300-1000x more common in Lancaster Amish
- Traced to Samuel King couple who immigrated in 1744
- Demonstrates multi-century persistence of founder effects