Driving research to find Kabuki syndrome treatments faster.

The Kabuki Syndrome Foundation’s mission is to advocate for individuals with Kabuki syndrome by finding treatments that will improve their lives. KSF drives patient-centered research through fundraising and collaboration with partners across the globe.

What is Kabuki Syndrome?

Kabuki syndrome is a rare, genetic disorder that affects multiple systems of the body. Kabuki syndrome is found equally across genders, ethnicities, and geographies. The gene mutations that cause Kabuki syndrome have been identified and provide potential treatment pathways.

Upcoming Webinar

Live on Tuesday, March 5, 2024 with an Expert Epidemiologist

Updating the prevalence of Kabuki syndrome is key to preparing for successful clinical trials that unlock life-changing treatments. Now is the time to make sure Kabuki syndrome data doesn’t stay in the past. 

Dive into the status of Kabuki syndrome prevalence with Dr. Cynthia Willey and the KSF team as we uncover:

  • How 1:32,000 was calculated in 1988
  • Why we need updated data now
  • Who we’re collaborating with to unlock new tools
  • Where Prevalence fits into LEAP and accelerating treatments

Ask the experts your questions live and take an active role in unlocking a brighter future for everyone with Kabuki syndrome. 

Therapies in Development

KSF is defining and driving the therapeutic roadmap for Kabuki syndrome. With the guidance of our Medical and Scientific Advisory board, we are identifying and funding priorities based on our community’s unmet needs.

​Kabuki syndrome symptoms have been successfully treated in mice, and KSF has a plan to find therapeutics for everyone with Kabuki syndrome. Now is the time to drive research for all people with Kabuki syndrome.

Kabuki Syndrome Research

Research Opportunities

Research is what makes the treatment of Kabuki syndrome symptoms possible. We partner with the world’s leading Kabuki syndrome doctors and researchers to increase your access and accelerate research.

Together – across type 1 and 2, from mild to severe – we can find treatments faster.

Learn More

Just Diagnosed? Start Here.

We understand the intense range of emotions that comes with a diagnosis and we’re here to help. KSF is led by parents and family members of children with Kabuki syndrome, and we network with adults with Kabuki syndrome.

Here you’ll find information, resources, community support, and stories of our joy and hope.

Download: Quick Start for Kabuki SyndromeDescargar en Español: Guía del Síndrome de Kabuki

Kabuki Syndrome Foundation Impact

$2 Million
committed to research thanks to our donors
450
individuals connected during annual research conference
123
Kabuki syndrome researchers & clinicians in our network
Impact Reports