KABUKI SYNDROME:
RESEARCH & THERAPY DEVELOPMENT
How to Treat Kabuki Syndrome
Kabuki syndrome affects multiple body systems, so medical care is best managed by a multidisciplinary team. This often includes specialists such as paediatric cardiologists, immunologists, endocrinologists, ENT doctors, ophthalmologists, and developmental therapists, each addressing specific needs.
While there is currently no treatment for the underlying genetic cause of Kabuki syndrome, symptoms are managed on an individual basis. Ongoing research is exploring a range of potential treatments, from dietary interventions and medications to cutting-edge gene-based approaches, that may improve quality of life.
Therapies
- Physiotherapy: to help improve low muscle tone (hypotonia) and build strength and coordination. Regular physio can aid gross motor development like sitting, crawling, and walking, and later, running and jumping.
- Occupational therapy: to assist with fine motor skills (such as grasping, feeding, dressing) and sensory integration. An occupational therapist can also recommend adaptive equipment or strategies to help the child with daily activities and become more independent.
- Speech and language therapy: to address speech delays, oral motor skills, and communication, often linked to hypotonia or palate differences.
Kabuki Syndrome Research
Researchers around the world are working to better understand Kabuki syndrome and develop effective treatments. Kabuki UK is proud to support these efforts through partnerships with scientists and other patient advisory groups focused on advancing research.
We’re actively collaborating with Dr. Siddharth Banka, Professor of Genomics at the University of Manchester (UK), and the Kabuki Syndrome Foundation to advocate for Kabuki syndrome research and therapy development.
To stay informed or take part in research opportunities in the UK, please sign up to receive our newsletter. For more information on global research initiatives, please visit the Kabuki Syndrome Foundation.
Kabuki Count
Do you have a clinical Kabuki syndrome diagnosis, or care for someone who does?
Register for Kabuki Count: a Global Census that will help us understand how many people around the world have Kabuki syndrome.
So far over 1200 families from 60+ countries have registered, including 166 from the United Kingdom!
