Driving research to find Kabuki syndrome treatments faster.

The Kabuki Syndrome Foundation drives research and treatment development, while fostering a global community of families, clinicians, and researchers to improve the lives of people with Kabuki syndrome.

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

Enrollment Now Open for Kabuki INSIGHTS

Kabuki INSIGHTS is the research registry and data hub for the global Kabuki syndrome community. Sponsored by the Kabuki Syndrome Foundation, Kabuki INSIGHTS was designed to ensure the lived experiences of individuals with Kabuki syndrome and their families can help inform treatment development and clinical care.

Adults with Kabuki syndrome and caregivers can participate completely from home by completing surveys, and in some countries, by connecting their medical records.

Each participant sheds light on the daily challenges, health changes, and needs of people with Kabuki syndrome of all ages. These key details can help researchers develop treatments and plan impactful clinical trials.

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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 Foundation Launches Kabuki INSIGHTS to Support Future Treatment Development

Research platform designed to help researchers better understand Kabuki syndrome, strengthen clinical trial readiness, and inform future treatment development. NORTHBROOK, IL, UNITED STATES, October 1, 2026 — Today, the Kabuki Syndrome Foundation (KSF) announced the launch of Kabuki INSIGHTS (INtegrated registry Study for Insights into Genetics, Health & Therapeutic Strategies in Kabuki syndrome). Kabuki INSIGHTS … Continued

KSF Launches Kabuki INSIGHTS: The Kabuki Syndrome Registry and Data Hub

The Kabuki Syndrome Foundation is proud to announce the launch of Kabuki INSIGHTS, a global research registry and data hub for people with Kabuki syndrome and their families. Kabuki INSIGHTS brings together patient- and caregiver-reported information to support research, improve understanding of Kabuki syndrome over time, and inform future clinical and therapeutic efforts. Each person … Continued

Global Community in Action! The Kabuki Syndrome Collective

This is the September edition of The Kabuki Syndrome Collective, the Kabuki Syndrome Foundation’s newsletter for our global community. Sign up below to receive future editions in your inbox. Kabuki syndrome families, researchers, clinicians, and the KSF team have been taking action in communities and professional networks around the world lately. Now, we’re getting ready … Continued

Kabuki Syndrome Foundation Impact

$2.8 Million

committed to research thanks to our donors

1,610

people with Kabuki syndrome registered

therapeutic programs underway

Impact Reports