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

Clinical Features

Bohring-Opitz Syndrome Key Features


ASXL1 Mutation

Respiratory Infections

Short Stature

Low Tone



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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.