The aim of the FaceMatch Project is to improve the chance of obtaining a genetic diagnosis for children and adults with intellectual disability around the world.

Intellectual disability (ID) begins before adulthood and has a lasting effect on development.

Children and adults with ID have a significantly reduced ability to understand new or complex information and to learn and apply new skills.

Two to three percent of the population have ID with an IQ score of less than 70, and one in 200 have moderate to severe ID with an IQ of less than 50.

The cause of ID is most commonly genetic. A genetic change may occur unexpectedly by chance for the first time in a child or can be inherited from one or both parents.

Finding the genetic cause of a person’s ID can be very difficult.

A genetic diagnosis can provide answers for parents and can provide information that will help with management of the disability.

Understanding the biological pathway is the first step towards the development of targeted therapy in the future. A genetic diagnosis can also provide useful information for parents who are planning more children.

Approximately 30-50% of individuals with ID have a face which is different from their parents yet similar to other people with the same genetic condition.

People with ID may have a collection of physical features, characteristics and medical problems that together can be described as a syndrome. This is referred to as syndromic ID. Down syndrome, Prader-Willi syndrome and fragile X syndrome are examples of syndromic intellectual disability.

The FaceMatch Project aims to use secure computer vision technology to match facial features of unrelated individuals with ID. This will enhance the ability to find a diagnosis for individuals with these rare conditions and help identify new genes causing ID.



Parents, guardians and doctors/genetic counsellors are invited to participate in the FaceMatch Project by submitting images of their children / patients with an intellectual disability.

To continually improve the face matching algorithm for diagnosis, the FaceMatch Project will also accept photographs from children / adults with a confirmed diagnosis.



Parents and doctors can provide medical and genetic information.

After creating an account, your nominated clinical geneticist/doctor can access your son/daughter’s profile page to add or update clinical or genetic information.

Email Contact

Email Contact

Active collaboration between parents and doctors is essential to the success of this project.

The registration process requires the parent / guardian to provide an email address for a nominated doctor or genetic counsellor. The nominated doctor/genetic counsellor can then provide relevant medical and genetic information about their patient.

If a high probability-match is made, the nominated doctor/genetic counsellor will be able to explain the results to parents / guardians.

We recommend that parents / guardians advise their doctor that they have been nominated as their doctor/genetic counsellor for this project.

The direct or departmental email addresses for doctors/genetic counsellors are usually available by contacting the institution or hospital where they work.

It may also be found on a letterhead or business card from your doctor/genetic counsellor.

Online Privacy and Security

Online Privacy and Security

The FaceMatch Project uses modern technology to encrypt information sent between your computer and our services using SSL/TLS encryption.

How do I know my information is encrypted? You will be able to tell that your information is encrypted because the first part of the web address (URL) will read "https" instead of "http", and your browser will also display a padlock icon (the exact location of which will depend on the browser you are using).

Your son / daughter's image and information will be securely stored on a firewall protected computer with password access restricted to the FaceMatchTeam.

Your information will not be transferred from Australian servers.

You have the right to access any personal information which FaceMatch holds about you, subject to the exceptions in the Privacy Act 1988 (Cth). You may also request the correction of information that is inaccurate.

Facial Match

Facial Match

If a high probability match is made, doctors/genetic counsellors can arrange to meet the parents to discuss the possible significance of the match.

It may take months or possibly years before a close match is made. During this time, the FaceMatch team will send participants an annual newsletter about the project.

We encourage parents / guardians to add more photographs as their son / daughter grows older.

Doctor-only Participation

Doctor/Genetic Counsellor-only Participation

Some parents or guardians may prefer not to be directly involved in the project, but consent for their doctor/genetic counsellor to provide information and photographs of their son/ daughter on their behalf.

The doctor/genetic counsellor will be required to create a FaceMatch project account and print the information and consent form for the parent / guardian to read and sign.

The doctor/genetic counsellor is unable to enter any information about their patient without uploading the signed consent form.

FaceMatch Technology

FaceMatch Technology

The FaceMatch Project uses computer vision technology to match the faces of individuals from around the world.

High-probability facial matches will be reported back to the nominated clinical geneticist/doctor for further investigation.

If a high-probability face match is not made at the time of enrolment, it is possible that a match will be found in the future. As more photographs are uploaded into the database, the chance of matching similar faces will increase.