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
Virtual Research Conference Dates Announced!
We are excited to announce the return of our annual research conference! This year's conference will feature several of the leading researchers and clinicians in Kabuki Syndrome, who will share their latest research initiatives with the community. More details to come! We are in the process of finalizing the agenda, so please check back regularly or visit our FB page.