An extremely rare genetic disorder, KBG syndrome has been reported as affecting just 200 or so individuals since 1975, when it was first described. Because it is so rare, few people know much about it. But KBG Syndrome Awareness Day is here to help people get informed and show support for those who are affected!
History of KBG Syndrome Awareness Day
KBG syndrome has a history that can only be traced back less than 50 years. While it may have been present prior to that time, it wasn’t until 1975 that doctors observed the condition and gave it a description. Eventually, advances in medicine allowed researchers to find the gene that is responsible for the unique characteristics in those born with it.
Because this genetic syndrome affects several body systems and is indicated by the ANKRD11 gene, the way that it presents can vary in different people. Signs and indicators of KBG syndrome may include skeletal abnormalities such as short fingers or scoliosis, as well as hearing loss, feeding difficulties, epilepsy and possibly other brain malformations.
Some distinctive facial features for those with KBG syndrome may include a V-shaped face, unusually large upper front teeth, a thin upper lip, a prominent nose bridge, wide eyebrows that grow close together, or a short wide skull.
KBG Syndrome Awareness Day was first celebrated in 2016 by the KBG Foundation, a non-profit organization dedicated to support and research. The choice of the day, June 11, acts as a little nod to the ANKRD11 gene. The purpose of the day is to educate and inform the public about this extremely rare neurodevelopmental disorder so that people can familiarize themselves with it and act supportively for those affected by it.
How to Celebrate KBG Syndrome Awareness Day
Consider some of these ways to participate in KBG Syndrome Awareness Day to show support and care:
Learn More About KBG Syndrome
One of the best ways to observe and show support for KBG Syndrome Awareness Day would be to get more informed and educated about this rare and unique medical condition. Here are some quick facts to consider:
60% of those with KBG are male and 40% are female
Known cases of KBG syndrome affect .000002% of the population
KBG is inherited in an autosomal dominant manner
Currently there is no standard treatment and symptoms are treated as they arise
Support the KBG Foundation
Folks who want to learn how to get more involved with KBG Syndrome Awareness Day can find out more at the KBG Foundation website. Information on ways to help the foundation include raising awareness, volunteering, fundraising, promoting research or making financial donations.
The website also offers opportunities to provide items for care packages to be sent to families of children with KBG syndrome, purchase KBG syndrome support merchandise, or print out free resources about the day.
Paint a Rock for KBG Syndrome
The founders of KBG Syndrome Awareness Day encourage individuals and families to engage in some rock painting activities to raise awareness for the day. It’s a great way to get the kids involved by painting colorful rocks, sharing the photos on social media, and placing them in public spaces to be found by others who can look up the hashtag #kbgrocks and learn more about the syndrome. Photos can also be shared through the KBG Foundation website.