Bohring-Opitz Syndrome Awareness Day takes place on April 6th each year. Bohring–Opitz syndrome (BOS) is a medical syndrome caused by a mutation in the ASXL1 gene. It is diagnosed by genetic testing and is characterised by characteristic craniofacial appearance, fixed contractures of the upper limbs, abnormal posture, feeding difficulties, intellectual disability, small size at birth and failure to thrive. Some of these features are shared with other genetic syndromes.
The syndrome is extremely rare, with fewer than 80 known cases worldwide. The leading cause of death is respiratory infections.
Children with BOS can have feeding difficulties, recurring respiratory infections, sleep apnea, developmental delay, failure to thrive, abnormal hair density and length, Wilms’ tumors, brain abnormalities, silent aspiration and other issues.
April 6th was selected for BOS Awareness Day because it is the anniversary of the formation of the first BOS Support Group on Facebook. This Support Group allows parents and caretakers of those living with this rare syndrome to communicate with someone who relates to their triumphs and challenges.
Parents from The Support Group selected the color gold to represent BOS Awareness because most children with BOS like shiny, bright objects. They selected denim (jeans) because it represents rare diseases.
Lets turn the world into gold & wear denim jeans today to show our support for BOS warrior! ✨
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