Kabuki syndrome is a rare genetic condition that affects an estimated 1 in 32,000 births across genders, races, and ethnicities. Symptoms associated with Kabuki syndrome vary between individuals and can include intellectual disability, immune deficiencies, seizures, cardiac and kidney abnormalities, and diminished muscle tone, and more.
Kabuki syndrome is caused by mutations in two known genes (KMT2D and KDM6A), and possibly others yet to be identified. KMT2D and KDM6A play key roles in regulating chromatin, the complex packaging of DNA inside our cells. When this process doesn’t work as it should, the instructions in DNA cannot be used correctly, which can lead to the wide range of medical, developmental, and behavioral challenges seen in Kabuki syndrome.
To better understand why these gene changes cause Kabuki syndrome, and how they might be treated, researchers study it as an epigenetic disorder.
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Kabuki syndrome can affect many different parts of the body, and symptoms vary widely from person to person. Common features include developmental delays, low muscle tone, immune deficiencies, distinctive facial characteristics, and more.
Download our Quick Start Guide for an overview of common symptoms and a summary of recommended medical evaluations from GeneReviews. You can share this guide with your care team.
Whether you are newly diagnosed or many years into your journey, you are not alone.
We offer resources designed to support families at every stage, including our Quick Start Guide to Kabuki Syndrome, opportunities to connect through global community events, and access to expert clinicians and our international support network.
It’s natural to have many questions after receiving a Kabuki syndrome diagnosis. Our FAQ section delivers research-backed answers and covers topics such as developmental milestones, medical complications, treatment options, and differences between Kabuki syndrome type 1 and type 2.
Searching for a diagnosis is difficult for patients and families. Getting a genetic diagnosis is an important step toward accessing the right care, building a treatment plan, and finding support. Our resources explain the different diagnostic options available, including free and reduced-cost testing.
We’re here to shorten your diagnostic journey and empower you with knowledge.
Seeing a doctor who has experience with Kabuki syndrome is a breath of fresh air for patients and caregivers. We have organized the global network of clinicians so you can quickly find an expert to help guide your journey. Stay tuned for updates to our care network.
A provider may be closer than you think.
Currently, there is no cure for Kabuki syndrome, and no treatments that target the underlying genetic cause. Care today focuses on managing symptoms through individual specialists and supportive therapies such as physical, speech, and occupational therapies.
We are working to change that. Through our Roadmap to Treatments, we’re driving research forward, with nine therapeutic options already in development.
You can help accelerate progress. By supporting us, you have a direct impact on the research that will move potential treatments from the lab to the clinic.
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.
KSF hosts events that address our community’s greatest needs. We bring the researchers to the community.
LEAP is how we unlocked the brightest future possible for people with Kabuki syndrome.
