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Bohring-Opitz Syndrome is an ultra-rare genetic condition with less than 85 reported cases in the world.

It is caused by a spontaneous mutation on the ASXL1 gene and affects the development of many parts of the body.

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

Click here to download the Clinical Features PDF file.