Kabuki syndrome is a rare genetic disorder that is estimated to affect 1 in 32,000 births. Kabuki syndrome is caused by changes in one of two genes, KMT2D or KDM6A. Symptoms associated with Kabuki syndrome vary between individuals and can include delay in development, learning difficulties, immune deficiencies, heart and kidney abnormalities, and diminished muscle tone.
The Manchester University NHS Foundation Trust hosts the national Kabuki Syndrome clinic.
There are currently no evidence-based management guidelines for Kabuki syndrome. Therefore, there is a great unmet need faced by thousands of patients across the world.
Major efforts to generate guidelines has been underway over the last few years where experts from around the world in collaboration with representatives of patient organisations have been drafting management recommendations for individuals with this condition.
An important milestone in this project has resulted in a Kabuki Syndrome Clinical Guidelines Consensus Meeting held in Boston on Wednesday 14th May 2025. The meeting was chaired by Professor Siddharth Banka and supported by several more experts from Manchester who contributed to the management guidelines. Thank you, Dr Tom Wright, Dr Ola Abdelhadi, Dr Kamal Masarweh, Aoife O’Sullivan, Dr Gordon Yuill, Dr Elizabeth Jones, Dr Luigi Venetucci, Professor Adrian Woolf, Professor Indi Banerjee and Melanie Bowden.
We are thankful to Kabuki UK and Kabuki Syndrome Foundation for their support, collaboration in this project.
The final management guidelines are expected to be available in 2026.
You can read more about the meeting here: Successful Kabuki Syndrome Clinical Guidelines Consensus Meeting | Kabuki Syndrome Foundation
