Our mission is to drive research efforts that show promise to treat, prevent or cure Kabuki Syndrome through fundraising, knowledge-sharing and collaborating with researchers around the world.

WHAT IS KABUKI SYNDROME?

Kabuki Syndrome is a rare, multi-system disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, and skeletal abnormalities. A wide variety of additional symptoms affecting multiple organ systems may occur, and vary from one person to another.

 

To date, researchers have identified a mutation in one of two genes that leads to Kabuki Syndrome. Males and females are affected equally and the syndrome is found in all ethnic groups. The incidence of Kabuki Syndrome has been estimated to be at least one in 32,000 births in the general population. With increased availability of gene testing, it is expected that two or three times as many cases may be properly diagnosed. There is currently no cure for Kabuki Syndrome.

  

Source:  National Organization for Rare Disorders

NEWS & UPCOMING EVENTS

The next research conference is planned for May 15-16, 2020 at Cincinnati Children's Hospital.

 

Look for more information coming soon. If you are interested in getting involved, please contact us.

© 2019 by Kabuki Syndrome Foundation

INFO@KABUKISYNDROMEFOUNDATION.ORG

P. O. Box 214, Northbrook, IL  60065

The Kabuki Syndrome Foundation is a 501(c)(3) non-profit corporation