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Oral-Facial-Digital Syndromes (OFDS) 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.

We hope to enlist individuals and families with any of the Oral-Facial-Digital Syndromes to help us learn more about these rare syndromes and to find genes that cause these conditions. Learning more about the OFD syndromes and the genes that cause them will advance our understanding of these conditions and help both patients and the doctors who take care of them.

Patients for whom a diagnosis of OFD has been given or is being considered are eligible to join. While participation may vary from family to family, for most people, participation in our research will involve the following:

  • Telephone conversations with our staff in which we will ask how the individual is affected.
  • We may ask you to send us available medical records. These could include x-rays and doctors' notes.
  • Donation of a blood sample. We will send you a sample collection kit.
  • A visit to the NIH for an in-person evaluation. This evaluation will consist of meetings with doctors and other clinicians from many specialties. We can pay for all or some of the costs associated with coming to the NIH, such as travel, meals, and lodging.


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

Principal Investigator

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


Last updated: November 15, 2012