Since 2015, April 6 has been recognized as Bohring-Opitz Syndrome Awareness Day, a time to spread awareness about this rare disease among the medical field and the general public. The first awareness day was organized by Taylor Gurganus, co-founder of the BOS Foundation. The date of April 6 was selected to commemorate the day that the first BOS Support Group was started on Facebook.
About Bohring-Opitz Syndrome (BOS)
Bohring-Opitz syndrome (BOS) is a very rare genetic disorder characterized by a distinct craniofacial appearance, joint contractures of the upper limbs, and other signs that vary from case to case. In about half of cases, mutations of the ASXL1 gene appear to cause the disorder. These mutations are de novo, meaning that they are not inherited and instead occur randomly. The gene KLHL7 has also been associated with the syndrome. Symptoms include small birth weight, failure to thrive, intellectual disability, abnormal posture, and difficulty feeding. Other complications can include heart problems, developmental delays, Wilms’ tumors, recurrent respiratory infections, and sleep apnea. There is no cure for the syndrome and treatment is symptomatic and supportive. Some patients do not survive past early childhood, but other can survive into early adulthood. To learn more about Bohring-Opitz syndrome, click here.
How to Get Involved
- Denim and gold are the colors of Bohring-Opitz Syndrome awareness. Gold was selected because patients tend to like shiny, reflective objects, so don’t forget to wear denim and gold on April 6th.
- Join the awareness day Facebook event, which you can find here.
- What does Bohring-Opitz syndrome mean to you? Send your answer in the body of an email or as a video to [email protected].
- Share this Powerpoint to educate others about the disorder.
- Post about the awareness day on social media using the hashtag #TogetherWeAreBOS.
- Support the community with the purchase of awareness ribbons or other items.
- Distribute flyers and coloring sheets around local businesses and children’s hospitals.
Bohring-Opitz syndrome is an incredibly rare disorder that is in dire need of greater understanding and awareness. Don’t miss this chance to help give this ultra-rare community a special boost.
