Kabuki Count: The Global Census

Kabuki Count is the global census and contact registry designed to drive research to treatments. Over 1000 individuals with Kabuki syndrome have joined Kabuki Count to show our strength in numbers!

If you have Kabuki syndrome or are a caregiver for someone with Kabuki syndrome, join the Count by filling out a simple, three-minute form. Kabuki Count is not a patient registry – it’s the fastest way for you to empower research and be aware of new treatment opportunities.

Be Counted

2024 Q1 Update: 1018 People in 51 Countries

Click the pie charts below for more data insights.

By Type of Diagnosis

Kabuki syndrome is known to be caused by a mutations in one of two genes, KMT2D or KDM6A. Kabuki syndrome can also be diagnosed clinically based on a person’s symptoms. VUS stands for variant of unknown significance found in genetic testing; additional testing may be recommend to determine a diagnosis.

KMT2D Participants by Sex

Participants with a mutation on KMT2D, or Kabuki syndrome Type 1, are nearly equally represented between sexes assigned at birth. The youngest participant is less than one year old and the oldest participant is 61. 

KDM6A Participants by Sex

A mutation on the KDM6A gene affects males and females differently and is called Type 2 in both sexes. The youngest participant of each sex is under one year old and the oldest participant of each sex is in their mid-forties. We cannot draw conclusions from this data, but it shows that sex differences in the prevalence of Kabuki syndrome Type 2 need further investigation.

Explore the Kabuki Count map to see the number of participants in your country!

Why Do We Count the Number of People with Kabuki Syndrome?

Successful research studies and clinical trials that lead to treatments rely on community participation. However, more than half of clinical trials fail due to their inability to reach recruitment targets, often due to a lack of awareness among potential participants. Kabuki Count is the best way for you to stay informed about opportunities and future treatments. 

Kabuki Count is the fastest way to show potential industry partners the number of families they can impact. The more individuals with Kabuki syndrome we can document, the more attractive our rare disease becomes to pharmaceutical companies, biotech firms, research institutions, clinicians, government funding, and donors — all of whom we need to move treatments forward!

We Are Global

We are proud to be a worldwide network of families and organizations across 50+ countries interested in helping people with Kabuki syndrome live their best lives. A global collection of patient advocacy groups, led by the Kabuki Syndrome Foundation, have partnered to ensure Kabuki syndrome is not left behind as scientific research advances.

We Are Growing

Kabuki Count is available in English, Spanish, and French with more languages in the pipeline. Since our launch on October 23, 2024 – Kabuki Syndrome Awareness Day – we’ve enabled tremendous growth through our partnerships with other organizations and institutions. 

Think these numbers should be higher? We do too! Please Share Kabuki Count with your network and contact us to become a partnering patient advocacy group.

It’s never too late to join Kabuki Count. We are stronger together in the pursuit of treatments. Every one counts.

Unsure if you have Kabuki syndrome? Explore resources that can guide your next steps.

We Are Ready For Research

Are you a researcher or industry representative exploring treatment development in Kabuki syndrome? Contact us for more information, resources, and collaboration opportunities. We are driving the Kabuki syndrome research roadmap to treatments.

Contact Us

Are You Ready to Do More?

Joining Kabuki Count is just one of several opportunities you can do to support research. Your participation makes it possible to advance research to treatments and improve the quality of life for those affected by Kabuki syndrome. These studies are open internationally and currently recruiting:

  • KSOC is your chance to see an expert while participating in clinical trial-enabling research. We have funding for 90+ families to cover your travel and accommodation expenses.
  • The TALK Study at Boston Children’s Hospital can be completed from home.