Skip to main content

Thank you for visiting You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

Ellis-van Creveld syndrome and the Amish

Genetic studies often involve the cooperation of large numbers of affected persons and their families. The discovery of the gene that, when mutated, causes a form of dwarfism (Ellis-van Creveld syndrome) has been accelerated through a collaborative effort between geneticists and the Old Order Amish, of Lancaster County, Pennsylvania.

This is a preview of subscription content

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.


  1. 1

    Ruiz-Perez, R.-L. et al. Nature Genet. 24, 283– 286 (2000).

    CAS  Article  Google Scholar 

  2. 2

    Ellis, R.W.B. & van Creveld, S. Arch. Dis. Child. 15, 65–84 (1940).

    CAS  Article  Google Scholar 

  3. 3

    Krawczak, M. & Cooper, D.M. Trends Genet. 13, 121–122 (1997).

    CAS  Article  Google Scholar 

  4. 4

    Hostetler, J.A. A. Amish Society (Johns Hopkins University Press, Baltimore, 1993).

    Google Scholar 

  5. 5

    McKusick, V.A., Hostetler, J.A., Egeland, J.A. & Eldridge, R. Cold Spring Harbor Symp. Quant. Biol. 29, 99– 113 (1964).

    CAS  Article  Google Scholar 

  6. 6

    McKusick, V.A. in Medical Genetic Studies of the Amish: Selected Papers Assembled, with Commentary (ed. McKusick, V.A.) 135–139 (Johns Hopkins University Press, Baltimore, 1978).

    Google Scholar 

  7. 7

    Cross, H.E. & McKusick, V.A. Social Biol. 17, 83–101 (1970).

    CAS  Article  Google Scholar 

  8. 8

    Murdock, G.P. Social Structure (Macmillan, New York, 1949).

  9. 9

    McKusick, V.A., Bias, W.B., Norum, R.A. & Cross, H.E. Humangenetik 5, 36–41 (1967).

    CAS  PubMed  Google Scholar 

  10. 10

    Juberg, R.C., Schull, W.J., Gershowitz, H. & Davis, L.M. Human Biol. 43, 477–485 (1971).

    CAS  PubMed  Google Scholar 

  11. 11

    McKusick, V.A., Eldridge, R., Hostetler, J.A., Ruangwit, U. & Egeland, J.A. Bull. Johns Hopkins Hosp. 116, 285–286 (1965).

    CAS  PubMed  Google Scholar 

  12. 12

    Kaitila, I. & Perheentupa, J. in Population Structure and Genetic Disorders (eds Eriksson, A.W., Forsius, H.R., Nevanlinna, H.R., Workman, P.L. & Norio, R.K.) 588–591 (Academic, New York, 1980).

    Google Scholar 

  13. 13

    Sulisalo, T. et al. Nature Genet. 3, 338– 341 (1993).

    CAS  Article  Google Scholar 

Download references

Author information



Rights and permissions

Reprints and Permissions

About this article

Cite this article

McKusick, V. Ellis-van Creveld syndrome and the Amish. Nat Genet 24, 203–204 (2000).

Download citation

Further reading


Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing