After we received our diagnosis of a rare disorder called Bohring-Opitz Syndrome, I wanted to know how we could help others receive an accurate diagnosis faster and more easily than we did. A few months before Hazel’s diagnosis, I learned about a facial recognition app called Face2Gene that identifies facial features from various syndromes and helps lead geneticists towards a suspected diagnosis. At that time, we had already given blood samples for whole exome sequencing, so we did not use the Face2Gene app on Hazel to search for a possible lead on a diagnosis.
But now we have come full circle. The Bohring-Opitz Support Group created a portal that allows families and medical professionals working with children and young adults diagnosed with BOS to upload their photos. These photos will be loaded in the F2G system, and as I understand it, an algorithm will be created that will compare undiagnosed children’s facial features to known syndromes in the database.
The process was very easy. I used the BOS portal, and uploaded several photos of Hazel at various ages (no glasses on, facing forward). The hardest part was picking the best photos, and then figuring out how old she was at each photo! After uploading the photos, I was asked to include limited demographic information such as race and gender. The process took me a little over an hour and most of that time was looking through the hundreds of photos to select the best ones!
I am very excited that our family can contribute to this project. My hope is that many families with BOS will contribute to the F2G BOS portal and that researchers will soon use the app to help lead an undiagnosed child to an accurate diagnosis.
Additional questions about how F2G works should soon be answered in an upcoming webinar with the F2G team and the creators of the BOS Support Group (Date TBD). Any interested BOS families, please stay tuned to their announcements!
To learn more about the BOS Face2Gene/BOS Support Group project, please visit:
If you suspect your child may have BOS, please consult your geneticist and then visit the BOS Foundation to learn about how we are helping families affected by BOS:
Here are more of the photos I used in the F2G BOS portal. Isn’t she awesome?