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
We are excited to announce the recent expansion of our Board of Directors and the addition of a part time Executive Director to help support our operations. We are in the process of reviewing our strategy and near term objectives and will be communicating some exciting initiatives soon. In the interim, if you have any comments or inquiries, please reach out to us here.
The research conference originally planned for May 15-16, 2020 at Cincinnati Children's Hospital was postponed due to COVID-19. We are currently evaluating some options for a virtual conference in 2021. Look for more information coming soon.