Melorheostosis is a rare skeletal and connective tissue disorder with an estimated prevalence of approximately 1 per 1,100,000 individuals. Due to its rarity, clinical knowledge, natural history, and understanding of disease progression remain limited. A standardized approach for collecting clinical data is needed to improve knowledge of this condition and support research and healthcare initiatives.

To develop a standardized dataset for melorheostosis within the European Registries for Rare Endocrine and Bone Conditions (EuRREB), enabling systematic collection of clinical information and supporting future research on disease characteristics, progression, and outcomes.

A multidisciplinary international working group developed a condition-specific dataset for melorheostosis within the EuRREB Core Registry platform. The dataset was designed to capture relevant information on patient characteristics, clinical presentation, skeletal involvement, imaging findings, genetic testing, complications, treatments, and patient outcomes. Data collection is performed through the registry platform used by participating expert centres.

A standardized melorheostosis dataset was developed and incorporated into the EuRREB registry framework. The dataset captures key clinical domains required to characterize this rare condition, including disease manifestations, affected anatomical sites, complications, and management strategies. Initial registry data demonstrated the feasibility of collecting structured information across expert centres and highlighted the variability in clinical presentation and disease burden.

The development of a standardized dataset for melorheostosis within EuRREB provides an important resource for improving understanding of this rare disease. International registry collaboration will support natural history studies, facilitate clinical research, and contribute to improved strategies for diagnosis, management, and patient care.

Melorheostosis is an extremely rare disorder for which clinical evidence remains limited. The EuRREB melorheostosis dataset enables harmonized collection of clinical information from expert centres and creates opportunities to better understand disease presentation, progression, and outcomes while supporting future research and healthcare improvements.