You are not alone.

We hope you find what you need here. If you were diagnosed today or twenty years ago, we are here to help.

Download the Quick Start to Kabuki Syndrome Guide

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, feeding difficulties, immune deficiencies, cardiac and kidney abnormalities, growth deficiencies and diminished muscle tone, to name a few. Each person with Kabuki syndrome is unique. 

Find the resources you need here

Find An Expert

Seeing a physician who has experience with dozens of Kabuki syndrome patients is a breath of fresh air for patients and caregivers. KSF has organized the global network of clinicians and researchers so you can quickly find an expert to help guide your journey. A provider may be closer than you think.

Our Global Support Network

Learn more about Kabuki syndrome communities and events around the world.

How to Connect

KSF Newsletter

KSF Newsletter

Register with us so you don’t miss out on key updates. You’ll be the first to know about interactive research events, crowdsourcing surveys, and clinical trial opportunities.

Sign Up Now
KSF's Wall of Accomplisments

KSF's Wall of Accomplisments

People with Kabuki syndrome continue to amaze us with their milestones and achievements. Post a picture, video, or sign that made you feel immensely proud. Victories of all sizes can spread joy!

View KSF's Wall of Accomplishments
KSF Annual Conference

KSF Annual Conference

The 2022 Kabuki Syndrome Foundation Conference videos are now available to stream on YouTube! You can also view the 2021 conference recordings and other playlists.

Watch Now on YouTube

We’re Listening.

We're here to help, and we would love to hear from you.

Get In Touch