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 filled with great sadness by the news of Margot Schmiedge's passing. Margot was the founder of Kabuki Syndrome Network (KSN) and a pioneer of Kabuki Syndrome advocacy. She made it her life's mission to bring Kabuki Syndrome awareness to the patient and scientific communities and introduced many of us to a community of support when we needed it the most.
Kabuki Syndrome Network housed a collection of scientific, clinical, and therapeutic information that helped families navigate their diagnosis during a time when there wasn't any other network available. She welcomed families across the globe into her yahoo group, which for many, became a second home.
Margot's legacy will live on within the Kabuki Syndrome community and through the many families who feel deeply indebted to her. We are humbled and inspired by her work and we hope to be able to continue and further Margot's efforts over the coming years.
Margot is survived by her loving husband, Dean, and their four children Leah, Kyla, Tara, and Erica. Tara has Kabuki Syndrome and was the inspiration behind her life's work.