Polydactyly Research Study

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services

Polydactyly Research Study


As researchers interested in human development, our studies focus on understanding the genetics and biology of limb development. One way to do this is to learn more about genes that form our limbs early in embryonic life. Genes are the instructions that our bodies use to grow and develop, and while some genes are well known in some instances, we still have much to learn.

One of the best ways to find genes that play a role in limb development is to match gene changes with patterns of limb differences. Having extra fingers and or toes (the medical term for this is polydactyly) is a common congenital difference. Polydactyly can be isolated, meaning that it does not appear to accompany any health problems or other symptoms in a person. Or, it can be syndromic, which means that polydactyly is present in an individual along with other health problems or congenital differences - part of a genetic syndrome.

We hope to enlist individuals and families with isolated polydactyly in at least two generations to help us find genes that cause polydactyly. The identification of such genes will advance our understanding of limb development.

Families with polydactyly and/or syndactyly (webbed digits) of the fingers and/or toes that is not part of a genetic syndrome are eligible to join. While participation may vary from family to family, for most people, participation in our research will involve the following:

Please see our Frequently Asked Questions page about our study. We also welcome your phone calls if you wish to discuss the study with our team.

Principal Investigator

Leslie G. Biesecker, M.D.
National Human Genome Research Institute (NHGRI)
National Institutes of Health

Last Reviewed: April 2, 2012