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.

For Families Our Strategy

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.

There are no Kabuki syndrome specific treatments that address the root causes of the syndrome. Current therapies for Kabuki syndrome focus on addressing symptoms as they present in an individual. We are here to unlock life-changing treatments faster.

Learn More About Kabuki Syndrome Learn More About KSF

Watch Our Latest Webinar

Recorded live and now on our YouTube channel, our global community webinar featured:

Treatment development updates including vafidemstat and AI-powered drug screening
New resources that empower families and clinicians
What’s next for our global community
Live Q&A sessions

Whether you have Kabuki syndrome or are a family member, friend, or professional looking to learn more, watch now to access new resources and celebrate exciting milestones.

Watch Now

Looking for treatments? You're in the right place.

There are now nine potential treatments in development for Kabuki syndrome, and it is our mission to advance them from the lab to clinical trials. We are dedicated to funding the most impactful research and empowering families with knowledge, resources, and hope for a healthier future.

Learn more about therapeutic development and how we’re accelerating it together.

The Kabuki Syndrome Therapeutic Pipeline

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.

With KSF, you will find information, resources, community support, and stories of our joy and hope. We recommend starting here:

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

Resources for Researchers

We are the global hub of Kabuki syndrome research and collaboration. By providing grants, forming new partnerships, and hosting scientific symposiums, we are identifying and accelerating innovative therapeutic strategies for Kabuki syndrome.

Funding Opportunities and More

Latest Updates

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Kabuki Syndrome Treatment Research: Updates from TOGETHER FOR PROGRESS

The Kabuki Syndrome Foundation (KSF) is building the research and clinical infrastructure needed to accelerate treatments for Kabuki syndrome and improve care for individuals and families today. During KSF’s 2026 community research webinar, Together for Progress, the Foundation shared updates on major research milestones, clinical trial preparedness, potential treatments, new resources for families, and opportunities … Continued

2026 Midyear Impact Report: Improving Care Today, Preparing for Tomorrow

We’re excited to share the latest progress in our Midyear Impact Report, a look at how your support is improving the care of people with Kabuki syndrome today, while also advancing treatments toward tomorrow’s clinical trials. At the Kabuki Syndrome Foundation, our aim is simple but ambitious: improve the lives of people with Kabuki syndrome through … Continued

1,610 People with Kabuki Syndrome Counted in KSF's Global Census

Each quarter, we provide an update that shows our Kabuki syndrome census growth & data insights from Kabuki Count. Kabuki Count is the global Kabuki syndrome census and contact registry designed to drive research to treatments for Kabuki syndrome. Thanks to Kabuki Count, we are able to directly notify families who are potentially eligible for … Continued

Kabuki Syndrome Foundation Impact

$2.8 Million

committed to research thanks to our donors

1,610

people with Kabuki syndrome registered

potential treatments supported by KSF

Impact Reports