Bohring-Opitz Syndrome Foundation, Inc.
"The Best Life for All Families Living with BOS"

How many, their stories, how you can help

Patients with BOS

Number of Patients with BOS

We often get asked "what is the approximate number of patients with BOS?". According to our MAB, a non-scientific guess would be 150-200 cases worldwide. A parent suggested a form that was public for everyone to keep track. We have listened and created the form below.
This public form was created to track the approximate number of patients with Bohring-Opitz Syndrome. Information provided on this form is shared to a public spreadsheet and on the BOS Foundation website for the sole purpose of tracking the approximate number of patients with BOS. Completion of this form/questions on the form is voluntary. The BOS Foundation is not responsible for information shared on the form.

If you are a parent/caregiver and would like to be added to the form, please email

Responses can be found here.

Stories to Share

Below are some stories from BOS families.  Sharing stories really help the BOS community raise awareness.  Would you like your child's story to be heard?

If so, please email for more information. 

BOS Patient Registry

We really encourage families to participate in the ASXL Patient Registry. Patients and families (including angels) with BOS or mutations in ASXL genes are enrolled in our study which is approved by the hospital ethics committees. Parents complete simple questionnaires online about their child’s medical history and may submit photographs as well as test results and notes from their physicians. The information is kept on a secure server. Identified information can only be accessed by the researchers in charge of the study. Deidentified content may be available to other researchers, members of the registry advisory board, and the study participants.