Bohring-Opitz Syndrome is an extremely rare genetic syndrome. There are approximately 150-200 cases worldwide. 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.
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!