Did you know that April 6th is Bohrin-Opitz Syndrome (BOS) Awareness Day?

Did you know that April 6th is Bohrin-Opitz Syndrome (BOS) Awareness Day?

You might be wondering what BOS is.  Bohring-Opitz Syndrome is an extremely rare genetic syndrome. There are fewer than 300 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. Patients 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.

For more information, please visit: http://bos-foundation.org/overview