Clinical decision-making in rare bone diseases – A survey among members of the European Paediatric Orthopaedic Society (EPOS) and the European Reference Network on Rare Bone Diseases (ERN BOND)

Purpose: Clinical management of rare bone diseases (RBDs) is challenged by low prevalence, delayed diagnosis, and complex multidisciplinary needs. This survey aimed to map current clinical practices in RBDs, identify unmet needs, and generate foundational data to guide the development of minimum standards for patient assessment. Methods: An anonymous online survey was distributed to members of the European Paediatric Orthopaedic Society (EPOS) and the European Reference Network on Rare Bone Diseases (ERN BOND) in September 2025. Questions addressed diagnostic work-up, interdisciplinary care, transition practices, and future perspectives. Quantitative data were analysed descriptively, and free-text responses thematically. Results: A total of 119 respondents (35 countries), mostly orthopaedic surgeons (74%), completed the survey. Almost all (118/119) provided direct care, and 63% had >10 years' experience treating RBDs. Over 80% routinely used anthropometric, posture, and alignment measures, whereas the use of advanced tools varied. Interdisciplinary care is widely applied at varying frequencies, with a high consideration for shared decision-making and quality of life. Most lacked registry access (>80%) and formal transition protocols (~70%). Respondents prioritised clinical frameworks over technological advances and anticipated increasing future relevance for technological innovations. Conclusions: This survey highlights considerable variability in clinical decision-making for RBDs. The findings underscore the importance and need of standardised interdisciplinary care, registry data, and structured protocols and frameworks. Study Significance: This is the first systematic survey of clinical practice and decision-making process in RBD care among EPOS and ERN BOND members. The findings may guide future recommendations and standards, supporting more harmonised care for individuals with RBDs, especially ultra-rare conditions.