About Kabuki Syndrome

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.

Symptoms & Recommendations

Download: Symptoms as PDF

Symptoms and their severity can vary widely between individuals. Some of the most common symptoms are visualized here.^{5, 6, 7} Kabuki syndrome was first described in 1981 by Japanese researchers, Dr. Norio Niikawa and Dr. Yoshikazu Kuroki.^1,2 A list of the cited publications can be viewed here.

KSF has also summarized select tables, including recommended evaluations following diagnosis, from GeneReviews: Kabuki syndrome. They are intended to be provided to healthcare professionals for review and implementation, where appropriate. Additional diagnostic and management considerations are available at GeneReviews.

Download: Recommended Evaluations from GeneReviews

How Could Kabuki Syndrome Be Treatable?

Kabuki syndrome symptoms have been successfully treated in mice, and KSF has a plan to find therapeutics that meet our community’s greatest needs. Join our community and help us find treatments faster.

What we can do together:

Fund key institutions to further understand how the treatments in mice worked, find new treatments, collect collaborative data, and increase succesful clinical trial capabilities.
Increase patient participation, like in sample collection efforts, to translate treatments safely from mice to humans and to drive more patient-centered clinical trial creation.

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 drive research towards the needs of our community often and early.

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.

Research Opportunities Donate Today

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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