About Kabuki Syndrome

What is Kabuki Syndrome?

Kabuki syndrome is a rare genetic disorder (disease) that is found equally across genders, ethnicities, and geographies. Kabuki syndrome is caused by mutations in two known genes, 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.

Overview & History

Kabuki syndrome is a rare genetic disorder first described in 1981 by Japanese researchers, Dr. Norio Niikawa and Dr. Yoshikazu Kuroki.^1,2 In 2010, researchers at the University of Washington discovered the first gene responsible for Kabuki syndrome: KMT2D, formerly known as MLL2.³ In 2012, KDM6A was confirmed as the second gene to cause Kabuki syndrome.⁴

Kabuki syndrome occurs in approximately 1:32,000 births and is believed to occur equally across all ethnicities and both sexes. Symptoms and their severity can vary widely between individuals. Some of the most common symptoms are included here.^{5, 6, 7}

Download Symptoms as PDF Works Cited

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.

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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