June 2026 – New International Clinical Guidelines for Kleefstra Syndrome
We’re pleased to share a summary of the newly published International Clinical Evidence-Base Guideline for Kleefstra Syndrome Type 1 (KLEFS1), an important milestone in improving the care and management of people living with Kleefstra Syndrome.
Developed over two years by an international consortium of clinicians, researchers and parents from 15 countries, the guideline brings together the latest evidence and expert consensus to provide 66 recommendations covering diagnosis, health monitoring, clinical management and family support.
The full clinical guideline has been written primarily for healthcare professionals and spans 22 pages. To make the key information easier for families and carers to access, one of our trustees has produced the practical summary below, highlighting the main recommendations across areas including mental health, sleep, neurology, speech and language, hearing, vision, cardiology, growth, constipation and ongoing family support.
We hope this summary helps families feel better informed when discussing care with their clinical teams and supports professionals who may be less familiar with Kleefstra Syndrome. As always, every individual with Kleefstra Syndrome is unique, and healthcare decisions should be made in partnership with the professionals involved in their care.
We are incredibly grateful to everyone who contributed to the development of these international guidelines and to our trustee for taking the time to translate this important publication into a clear, family-friendly resource.