Kabuki Syndrome Foundation Organizing International Clinical Management Guidelines Consensus Meeting
Update: see photos from the event!
The Kabuki Syndrome Foundation (KSF) is bringing clinicians from around the world together in-person to finalize standardized, evidence-based healthcare recommendations for individuals with Kabuki syndrome. Known as Clinical Management Guidelines, these provide up-to-date guidance and improve the diagnosis and management of Kabuki syndrome. KSF is collaborating with Dr. Siddharth Banka and leading global experts on Kabuki syndrome to publish the Kabuki Syndrome Clinical Management Guidelines. This gathering is a crucial step in moving this project forward.
Our commitment to developing and sharing the guidelines will lead to more targeted healthcare that can improve the daily lives of people with Kabuki syndrome worldwide.
What Are Clinical Management Guidelines?
Clinical Management Guidelines are expert-developed recommendations that help medical professionals diagnose, treat, and manage all aspects of a specific disease. One prime example is the Consensus Clinical Management Guidelines for Friedrich’s Ataxia.
To establish similar guidelines for Kabuki syndrome, KSF is hosting the Kabuki Syndrome Clinical Management Guidelines Consensus Meeting, bringing together leading experts to discuss and finalize these research-backed protocols. The guidelines can:
- Provide global healthcare professionals with peer-reviewed recommendations.
- Improve health outcomes for people with Kabuki syndrome across the lifespan.
- Equip families with accessible information to advocate for the most appropriate medical care.
Global Expert & Community Collaboration for Consensus
Since 2022, KSF has partnered with Kabuki syndrome expert Dr. Siddharth Banka, University of Manchester, and other international experts to develop updated Kabuki syndrome guidelines. KSF staff and volunteers have enabled the collection and review of current Kabuki syndrome publications, provided online platforms for experts to submit recommendations, and collaboratively planned the culmination of this work at an in-person meeting to finalize these recommendations. Over the past year, international teams of specialists have reviewed research, shared clinical insights, and drafted recommendations.
This May in Boston, Massachusetts, KSF will host project leaders, over 46 clinicians, and Kabuki syndrome caregivers and adults to refine these guidelines across 14 themes. The themes reflect the many body systems affected by Kabuki syndrome, such as neurology, immunology, cardiology, and dermatology.
“Clinical management guidelines provide clarity, consistency, and confidence when making important medical decisions in a complex condition like Kabuki syndrome,” said Dr. Banka. “This project is a crucial step toward improving patient care, enabling healthcare providers to make informed decisions based on expert consensus and the latest research.”
During the meeting, the experts will hear from community members, discuss, refine, and then finalize recommendations for inclusion in the guidelines. KSF is sponsoring multiple community members with diverse experiences to join the experts in Boston. These advocates will share their personal journeys and perspectives of our international community. Their participation will help ensure that the guidelines reflect real-world family experiences, alongside the published data and expertise of the contributing clinicians.
Following the meeting, Dr. Banka and his team will draft a publication, which will undergo peer review and publication in a scientific journal. Due to the nature of scientific publications, this process is anticipated to take at least one year. Concurrently, KSF will also co-create a family-friendly summary to ensure accessibility and aims to support its translation into multiple languages.
Guiding Future Research: How the Guidelines Influence KSF’s Grant-Giving
During the development of the Kabuki syndrome guidelines and summaries, gaps in knowledge and unanswered questions about symptom management will emerge. These findings, paired with the priorities of the community, will directly inform future KSF funding decisions, including allocation of our anticipated 2025 research grant funds.
Ultimately, the development of the Kabuki Syndrome Clinical Management Guidelines project enables three key expected outcomes:
- Publication and distribution of peer-reviewed Kabuki Syndrome Clinical Management Guidelines, improving global diagnosis and care.
- Family-friendly guideline summaries and translations, making critical medical information accessible.
- Identification of research gaps and funding priorities to inform the allocation of anticipated KSF research grants in 2025.
Help Ensure the Guidelines Reach Every Family and Physician Who Needs Them
By fostering collaboration among experts and families, KSF aims to improve care and advance research for the global Kabuki syndrome community. Your support today will help ensure that KSF can continue driving the development and distribution of these guidelines for clinicians and families.
We will continue to empower families with accessible information, enabling them to advocate effectively for the best possible medical care through these updated guidelines and beyond. This work is made possible only with your support! Nobody should feel confused and frustrated when they meet with their own healthcare team. While not as inclusive as the guidelines will be, KFS’s Quick Start Guide provides an interim healthcare roadmap for families and caregivers.
Donations from the Kabuki syndrome community make this progress possible, and together we can eliminate the uncertainty that exists today. By June 1, 2025, KSF is working to raise $30,000 to continue this initiative and similar efforts so that families, clinicians, and researchers can effectively partner and share knowledge. Together we can provide every medical professional the best available care recommendations. Make a donation online today or explore other ways to support this life-changing initiative.