Maryland governor proclaims June 11 is KBG syndrome awareness day
With a proclamation signed by Governor Larry Hogan, the State of Maryland has officially recognized June 11, 2022, as KBG Syndrome Awareness Day.
The KBG Foundation, a U.S.-based nonprofit organization with international partnerships working to improve the lives of people with KBG Syndrome, is thrilled that Maryland encourages the need to drive awareness of the condition, which is necessary to entice research into treatments and increase support for people living with the syndrome.
“Thank you to Governor Hogan for recognizing that awareness is key when it comes to supporting families and finding a treatment for KBG Syndrome,” said Annette Maughan, CEO and founder of the KBG Foundation.
The proclamation notes that the State of Maryland is pleased to join with the KBG Foundation to raise public awareness and understanding. KBG Syndrome is a rare genetic disorder caused by a mutation on the ANKRD11 gene, associated with a spectrum of challenges, including developmental delays, cognitive disabilities, behavioral disorders, autism, seizures, hearing loss, skeletal anomalies, heart complications and gastrointestinal problems. Most people with KBG share at least some physical traits, including a triangular face, heavy eyebrows, curved fingers and spine, and short stature.
ABOUT THE KBG FOUNDATION
The KBG Foundation is a 501(c)(3) nonprofit organization, dedicated to providing support, assisting in research programs and advocating to raise awareness about KBG Syndrome. KBG Syndrome is caused by a mutation in the ANKRD11 gene at location 16q.24.3 (maybe more) which creates a shortening of a scaffolding protein in that region. This short protein may be completely ineffectual or may be somewhat functioning which contributes to the variety and severity of the symptoms. Nearly all patients present with large upper front teeth, bushy eyebrows and triangular faces. The ‘KBG appearance’ is quite distinctive and is usually the first noticeable trait along with developmental delay and other bone anomalies. For no known reason, males seem to be more affected than females. Treatment is determined on a case by case basis as symptoms arise. There is no cure, only management. The more patients are identified, the more likely a cure will be found.