Successful Kabuki Syndrome Clinical Guidelines Consensus Meeting
When clinicians, researchers, and families impacted by rare disease unite, extraordinary progress becomes possible. This May, the Kabuki syndrome community achieved just that.
We’re proud to share the success of the Kabuki Syndrome Foundation’s Clinical Management Guidelines Consensus Meeting, held May 8–9, 2025. This event brought together more than 40 clinicians from across the globe, alongside 11 dedicated community representatives—parents, caregivers, and advocates with deep lived experience.
Together, they worked to refine the clinical management guidelines for Kabuki syndrome, a vital step toward improving care and empowering families and providers worldwide.
These evidence-based, expert-consensus guidelines will cover 18 essential areas, including cardiology, neurology, feeding, and diagnostic criteria. Once finalized, they’ll provide practical, clear, and consistent guidance to healthcare professionals and serve as a critical resource for families navigating life with Kabuki syndrome.
Meeting participant and Kabuki UK Chairperson, Sally Trewartha shared: “One of our biggest aims with Kabuki UK was to make the period after diagnosis easier for parents. Having reliable information available and being able to talk about possible treatment pathways and research gives so much hope.”
Each body system was addressed in a dedicated session within the two-day meeting. Each session began with an introduction from a clinical expert and community representative, who shared how symptoms affect daily life – ensuring that both medical expertise and lived experience shaped every recommendation. Over 120 draft recommendations were discussed, refined, and voted on.
Guideline harmonization and preparation for publication are now underway, led by Dr. Siddharth Banka, University of Manchester and colleagues. A draft is expected in 2026, with full publication anticipated by 2027, pending peer-review.
This meeting marks a powerful milestone: a testament to what the global Kabuki Syndrome community can achieve through collaboration. This project offers new hope for every family on this journey.
The Kabuki Syndrome Foundation would like to especially thank:
- The Guidelines Steering Committee:
Prof. Siddharth Banka, University of Manchester
Prof. Raoul Hennekam, Amsterdam State University
Prof. Margaret Adam, University of Washington
Prof. Olaf Bodamer, Roya Kabuki Program at Boston Children’s Hospital
Prof. Hans Björnsson, University of Iceland, Johns Hopkins School of Medicine
Prof. David Geneviève, Centre Hospitalier Universitaire de Montpellier
- The Guidelines Project Management Group:
Prof. Siddharth Banka, University of Manchester
Dr. Thomas Wright, University of Manchester
Dr. Ola Abdelhadi, University of Manchester
Matt McAndrew, Kabuki Syndrome Foundation, Kabuki UK
Dr. Corinne Stobaugh, Kabuki Syndrome Foundation, James A Haley VA
Dr. Jessica Weatherstone, Kabuki Syndrome Foundation
Dr. Clara Tang, Kabuki Syndrome Foundation
and:
- Natalie Formica, Boston Children’s Hospital, for her invaluable logistics support,
- Tracy Peacock for excellently facilitating our timed discussions,
- and the dozens of community members who contributed to these guidelines before and during the meeting.
We are profoundly grateful for the generous gift of your time and expertise.
