International Study of Genetic Syndromes that Include Facial Abnormalities

FACES is so excited about this new study that is to begin immediately and we encourage all of our families with members having craniofacial disorders to participate. This international study is being carried out to better characterize genetic syndromes that include facial abnormalities. The cornerstone of this study is building a database of special three-dimensional (3D) facial photographs of people with different craniofacial syndromes that can be used to precisely measure and define facial abnormalities and understand the underlying biological problems. This will become part of the National Institutes of Health “FaceBase" database (https://www.facebase.org/), and will be available to assist other qualified scientists who are working to better understand these syndromes. Additionally, this syndrome database will be used to help develop a computerized system to aid physicians in diagnosing these syndromes in the clinic.

The initial phases of study enrollment will be carried out at patient group meetings, which the team will attend if invited. Accordingly, they are building bridges with as many patient groups as possible. If you or your child joins the study, they will then collect some information, they may collect some relevant medical records, and they will take a 3D photograph, which will provide computerized information about the shape of your/his/her face. Total participation time is about 10-15 minutes. This study is funded by the National Institutes of Health and has been approved by the Colorado Multiple Institutional Review Board. We hope you and your group will consider taking part. To become a part or to invite the researchers to your group meetings or just to ask more questions, please contact: Richard A. Spritz, M.D., Professor and Director, Human Medical Genetics and Genomics Program, University of Colorado School of Medicine by email at: Richard.Spritz@ucdenver.edu.