Recruiting: Facematch Fragile X Project at University of Newcastle

The FaceMatch project is using computer face-matching technology to help find a diagnosis for children with intellectual disability (ID) where genetic testing has not provided an answer. As we know, the time prior to diagnosis is one of the toughest periods in the journey of our children and we hope that the inclusion of families such as yours with a known diagnosis may help those families who are still searching for a diagnosis.

People with the same genetic condition can often share similar facial features. By matching facial images and written descriptions of undiagnosed children and adults from around the world, the project aims to provide a genetic diagnosis for children at an earlier age, help more families find a diagnosis and discover new ID genes.

The FaceMatch project includes a Fragile-X Syndrome Early Diagnosis Study to determine whether facial images can assist with early diagnosis of Fragile X syndrome by the age of 12 months. We are inviting you to consider helping us with this project by contributing photographs of your family member(s) with Fragile X syndrome to the secure FaceMatch image database. Each image helps improve the ability of the FaceMatch program to recognize certain facial features and syndromes.

Eligibility for the study

Parents of children or adults who have a confirmed genetic diagnosis of Fragile X syndrome. Parents are asked to upload a scanned or photographed copy of the letter or genetic result confirming the diagnosis.

Parents of children or adults with a clinical diagnosis of Fragile X syndrome who have tested negative on genetic analysis will be asked to nominate an associated doctor to work with the Facematch team.

Study Participation Details

Parents are invited to visit the FaceMatch site at to complete registration and online consent process. Consenting parents will provide information for their son or daughter’s profile page in the secure FaceMatch platform. This will include uploading photographs of them at different ages and providing relevant medical information.

Types of photographs the research team request for this study:

  • Images at different ages (eg baby, toddler, school-aged child, teenager, adult).
  • Photographs prior to age of diagnosis. For example, if your child was diagnosed at age 4 please provide photographs at ages 1, 2 and 3 years if possible.
  • A photograph around the age of diagnosis.
  • If possible, photographs should show a clear facial image (either color or black & white).
Potential Benefits
  • The overall objective of this project is to test the clinical utility of FaceMatch at prompting a diagnosis of Fragile X syndrome by the age of 12 months.
  • This project will expand the current FaceMatch database and provide proof-of-concept data for the clinical utility of the FaceMatch technology at prompting earlier consideration of Fragile X syndrome.
Contact Information

For further information, please contact Genetic Counselor, Jackie Boyle or Project lead Dr Tracy Dudding-Byth on (02) 49853100 or email

Enrollment Information

Dr. Tracy Dudding-Byth
(02) 49853100

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