If you were diagnosed today or twenty years ago, we are here to help. Our Quick Start Guide to Kabuki Syndrome is available in English and Spanish.
Download the Quick Start Guide to Kabuki Syndrome
At our latest, live, global community webinar in July 2026, we shared:
And 100% of surveyed attendees agreed, once again, that: “It was easy to follow the research and science information.”
We’re here to connect you to the science that can change lives.
Seeing a physician who has experience with dozens of Kabuki syndrome patients is a breath of fresh air for patients and caregivers. We have 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.
Sharing these research publications with your doctors can be a powerful tool to help answer questions and advocate for assessments. We would also like to thank all the families and scientists who have made these findings possible. Because of your gifts, families today have more tools for diagnosis, therapies, and preventative healthcare.
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
Abnormal Immune Profile in Individuals with Kabuki Syndrome
Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome
KMT2D regulates activation, localization, and integrin expression by T-cells
Genetic Testing Information for Patients & Families
International Consensus of Diagostic Criteria for Kabuki Syndrome
GeneReviews: Kabuki Syndrome – includes differential diagnosis
Defining DNA Methylation Signature of Kabuki Syndrome
Find more resources on our page: Diagnosing Kabuki Syndrome
Explore Kabuki syndrome groups around the world and build your support network.
Join Kabuki Count to be notified of events near you!
+ Chicagoland Kabuki Syndrome Family Day (Illinois, USA)
+ All Things Kabuki (USA-based)
+ The Kabuki Gathering (Texas, USA)
+ Mid-Atlantic Kabuki Syndrome Family Gathering (Maryland, USA)
+ The Kabuki Karnival (Wisconsin, USA)
+ Pacific Northwest Kabuki Syndrome Events (Washington, USA)
+ Kabuki UK (United Kingdom)
+ Stichting Kabuki Syndroom (Netherlands)
+ Association du syndrome KABUKI Belgique (Belgium)
+ Sindrome Kabuki Espana (Spain)
+ Associazione Italiana Sindrome Kabuki (Italy)
+ Association Syndrome Kabuki (France)
+ The Scandinavian Kabuki Association (Scandinavia)
+ Kabuki Syndrome Support Japan
+ Supporting Aussie Kids with Kabuki Syndrome (Australia)
+ Interested in joining a virtual meeting for adults with Kabuki syndrome, hosted by an adult with Kabuki syndrome? Contact us for more information.
Hosting a new event? We’d love to hear from you!
Join Kabuki Count to hear about the latest events – online and in-person – and catch up on our YouTube channel! Watch recordings by year or by theme in Playlists.
You can join the private, global Kabuki Syndrome Facebook Group to connect with other families and adults with Kabuki syndrome.
KSF is on Facebook, Instagram, and LinkedIn. We’d love to hear from you!
Kabuki Syndrome Awareness Day is October 23! Will you wear a shirt or hat to help raise awareness? Every purchase also helps fund family resources and research. Shop and ship globally.
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.
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!
More than 1,610 individuals with Kabuki syndrome have joined our global census so far. With each person counted, we are showing our strength in numbers.
The more individuals with Kabuki syndrome we can document, the more attractive our rare disease becomes to pharmaceutical and biotech companies, researchers, clinicians, government funding, and donors — all of whom we need to move treatments forward!
In less than three minutes, you can join our worldwide network of families and organizations interested in helping people with Kabuki syndrome live their best lives.
As a person with this rare disease or caregiver, your participation is your power to improve the standard of care for Kabuki syndrome and help find treatments. Treatments for rare diseases are made possible by families driving research forward.
Participating in research can unlock benefits for you now, like gaining access to expert care. You are also investing in your future quality of life, as Kabuki syndrome is a lifelong condition. And you are helping others – those here today and for generations to come.
Your input and participation enables us to fund the most impactful research and find treatments faster. Join us!
Kabuki INSIGHTS is the research registry and data hub for the global Kabuki syndrome community. Adults with Kabuki syndrome and caregivers can participate completely from home by completing surveys, and in some countries, by connecting their medical records.
Kabuki INSIGHTS was designed to ensure the lived experiences of individuals with Kabuki syndrome and their families can help inform treatment development and clinical care.
Your participation can help researchers develop treatments and plan impactful clinical trials.
As of October 1, 2025, Kabuki syndrome is now officially recognized in United States medical records with its own ICD-10-CM code: Q89.81.
The code is for Kabuki syndrome type 1, type 2, and people with a clinical diagnosis receiving care in the United States.
This milestone can improve medical care, strengthen insurance coverage, and accelerate research – but only if families like yours share it with their providers.
Take action today: print these wallet cards and share the new code with all of your healthcare providers over the next two years.
The Kabuki Syndrome Foundation led a two-year campaign to secure this ICD-10-CM code because accurate recognition is essential for improved care and research.
