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Bohring-Opitz Syndrome

Bohring-Opitz Syndrome is an extremely rare genetic syndrome. There are fewer than 100 cases in the world. This syndrome is diagnosed by genetic testing and is a mutation in the ASXL1 gene. The leading cause of death is respiratory infections. Children with BOS can have feeding difficulties, recurring respiratory infections, sleep apnea, developmental delay, failure to thrive, abnormal hair density and length, Wilm’s Tumors, brain abnormalities, silent aspiration, and the list goes on.  


BOS Key Features 

This document was created by Dr. Bianca Russell and Dr. Wen-Hann Tan,  medical advisors to the BOS Foundation.

Click here to view PDF

Ask the BOS Experts

Legal Disclaimer:  Please remember that the BOS Foundation's Ask the Experts service is made of volunteer professionals in various areas of specialization. Response times will vary and a response is not guaranteed. Answers are not considered a medical, behavioral, or educational consultation. Ask the Experts is not a substitute for the care and attention your child's personal physician, psychologist, educational consultant, or social worker can provide.

Parents, caregivers, healthcare providers, and other specialists working with children and adults with BOS often have questions about the best way to care for patients with BOS.

We are starting an “Ask the BOS Experts” program that will allow the BOS community to email their questions to members of our Medical Advisory Board. Questions can range from topics such as development, medical issues, or best practices for treatment and therapies. No question is too big or too small.

Please keep in mind that BOS is very rare, and our Experts may not have all of the answers yet. But your questions will help the BOS community learn more about this syndrome and build the collection of knowledge surrounding BOS.

Email your questions to

BOS Awareness Day 

Bohring-Opitz Syndrome Awareness Day takes place on April 6th each year.  Taylor Gurganus, co-founder of the BOS Foundation, organized the first BOS Awareness Day on April 6, 2015.  April 6th was selected for BOS Awareness Day because it is the anniversary of the formation of the first BOS Support Group on Facebook. Click here to read more and find out how you can get involved!