Name of Syndrome
BOS Awareness Day 2026
Bohring-Opitz syndrome (ASXL1) is a rare neurodevelopmental disorder caused by a genetic mutation in the ASXL1 gene. It often involves severe developmental delays and distinct facial features, and due to medical complications, infant mortality is high. Only a few reach adulthood. Aside from the difficulties of raising a child with so many challenges, the greatest fear is that we will lose our beloved children far too early.
But what happens when a parent dies?
Read More
Just 11 days to go! Rare Disease Day is approaching. Join our Bohring-Opitz Syndrome Family with these frames for your social media profile picture and show your support on Rare Disease Day on February 28th 2022! twb.nz/bohringopitzrarediseaseday2022 twb.nz/bohringopitzrarediseaseday
Read More
Elaney’s Story with Bohring-Opitz Syndrome, written by her mother when she first became acquainted with the BOS Support group 10 years ago. “Elaney’s life has been a long and winding road with many ups and downs, twists and turns.” A number of things have changed in that time, but with a view of today there is one that remains: “Now age 19, she is much the same as she has always been; forever our baby girl.”
Thank you, Gina, for sharing your story of Elaney with us today!
Nearly all medical publications about Bohring-Opitz Syndrome (BOS) come from Europe and the United States of America. This case report by Yousef Assaleh is from Libya and documents a boy with BOS. Although this patient did not have the physical BOS characteristics (upper limb deformities or radial dislocation, ulnar deviation of the hands, and prominent eyes…
Read More
Bohring-Opitz Syndrome/ASXL1 