What is Kabuki Syndrome?

Kabuki syndrome is a rare genetic disorder that affects an estimated 1 in 32,000 births across genders, races, and ethnicities. Kabuki syndrome is caused by mutations in two known genes (KMT2D and KDM6A), and possibly others yet to be identified. The gene mutation usually occurs randomly, but Kabuki syndrome can be passed on by a parent to their child.

Symptoms associated with Kabuki syndrome vary between individuals and can include intellectual disability, immune deficiencies, cardiac and kidney abnormalities, and diminished muscle tone, to name a few. Each person with Kabuki syndrome is unique. 

Frequently Asked Questions

Symptoms & Recommendations

Symptoms and their severity can vary widely between individuals. Some of the most common symptoms are visualized here. Kabuki syndrome was first described in 1981 by Japanese researchers, Dr. Norio Niikawa and Dr. Yoshikazu Kuroki. A list of the cited publications can be viewed here.

Just diagnosed? Welcome to our community. We recommend downloading our Quick Start Guide in English or Spanish.

The Guide also includes a summary of recommended medical evaluations from GeneReviews. These are intended to be provided to healthcare professionals for review and implementation, where appropriate.

How Could Kabuki Syndrome Be Treatable?

​Kabuki syndrome symptoms have been successfully treated in mice. We have a plan to bring those treatments to clinical trials on an accelerated timeline. LEAP is the roadmap to treatments for Kabuki syndrome, and we need your help. 

What we can do together:

  • Fundraising and awarding milestone-based grants to key institutions enables us to advance our knowledge of Kabuki syndrome, treatment pathways, and increase our ability to have a successful clinical trials.
  • Participating in research from home and in-person around the world is crucial to supporting treatment-focused research. Data and samples from people with Kabuki syndrome and their families enables researchers to better understand the impact of Kabuki syndrome and develop the most effective treatments.

Why we need to do this now:

  • Treatments for rare diseases are nearly always made possible by active patient and family communities.
  • The best treatment for one person with Kabuki syndrome may not be best for everyone with Kabuki syndrome. We need to consistently keep patients of all backgrounds at the center of research.

We are our best advocates, and we need everyone. Whether your chart says type 1 or type 2, mild or severe, your story matters. Now is the time to drive research for all people with Kabuki syndrome.

Participate in ResearchExplore Ways to Give

How Many People Have Kabuki Syndrome?

Over 1000 individuals with Kabuki syndrome have joined Kabuki Count, the global Kabuki syndrome census, so far. 11 Kabuki syndrome organizations from around the world have partnered to show our strength in numbers.

The more individuals with Kabuki syndrome we can document, the more attractive our rare disease becomes to pharmaceutical and biotech companies, researchers, clinicians, government funding, and donors — all of whom we need to move treatments forward!

In less than three minutes, you can join our worldwide network of families and organizations interested in helping people with Kabuki syndrome live their best lives.

Ready to Dive Deeper?

Intro to Epigenetics

Intro to Epigenetics

When the time is right for your family, we are here with more details. KSF’s educational content is reviewed by our Medical and Scientific Advisory Board.

Intro to Epigenetics
Key Publications

Key Publications

KSF provides direct access to current, key scientific publications to guide patients and providers in the clinic.

Key Publications
LEAP to Treatments

LEAP to Treatments

LEAP is how we unlocked the brightest future possible for people with Kabuki syndrome.

The Roadmap to Treatments
Conferences & Events

Conferences & Events

KSF hosts events that address our community’s greatest needs. We bring the researchers to the community.

Conferences & Events