20.500.12556/DiRROS-25629 International clinical evidence-based guideline for Kleefstra Syndrome Kleefstra syndrome (KLEFS1) is a rare monogenic neurodevelopmental disorder (mNDD) with multisystem involvement, caused by disruption of EHMT1 function, resulting in significant burden on affected individuals and their families. The current shortage of and globally scattered syndrome-specific knowledge has led to significant disparities in the access to and provision of evidence-based and individual-centered expert care. To address the challenges and improve outcomes for individuals with KLEFS1, an international KLEFS1 guideline consortium was formed consisting of 43 participants, both clinical experts and patient-representatives, from 15 different countries. The primary goal of the consortium was to develop a comprehensive and high-quality guideline for KLEFS1, aiming to enhance patient care, establish a uniform minimum international standard of care, and support decision-making. The current clinical guideline is evidence-based and includes 66 tailored recommendations to improve KLEFS1 care. The comprehensive methodological approach ensures broad consensus and supports effective implementation. Furthermore, this guideline serves as a valuable methodological model for guideline development in the context of rare disorders. Kleefstra syndrome clinical guideline treatment sindrom Kleefstra klinične smernice obravnava bolnikov true false false Elsevier Nizozemska Angleški jezik Slovenski jezik © 2026 Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics Neznano 2026-01-26 11:23:53 2026-01-26 11:23:54 2026-01-27 03:53:58 0000-00-00 00:00:00 2026 0 0 Nasl. z nasl. zaslona; Soavtorica iz Slovenije: Tanja Zdolšek Draksler; Opis vira z dne 21. 1. 2026; str. 1-28, [1-9] iss. , [article no.] 102070 Vol. 28 [in press] 2026 0000-00-00 PreprintVObjavi Objavljeno NiDoloceno 2025-02-14 2026-01-14 2026-01-20 616.899 1530-0366 10.1016/j.gim.2026.102070 265560579 https://www.sciencedirect.com/science/article/pii/S1098360026003886?via%3Dihub 1 1efb0d77-faa1-11f0-a15d-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=38866 RAZ_Bouman_Arianne_2026.pdf RAZ_Bouman_Arianne_2026.pdf 1 09266C72456908AF7F48C3D1BD3AEF94 3f01416f8385c1bc73d8ec5c6dd41ed79f7fda25f8759cef86ea68a941b15b7c a2a0b1e6-faa1-11f0-a15d-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=38868 Institut Jožef Stefan 0 0 0