Skeletal congenital bone disorders encompass a diverse group of rare conditions that present significant diagnostic and therapeutic challenges. This special issue of Calcified Tissue International brings together nine comprehensive reviews that provide insights into the pathophysiology, clinical presentation, and management of these complex disorders, including osteomalacia, XLH, hypophosphatasia, Gaucher disease, Rett syndrome, and Aromatase deficiency. Additionally, the issue includes a research article highlighting the role of the European Reference Network for Rare Bone Diseases (ERN BOND) and EuRR-Bone registries in standardizing care and advancing research for rare bone and mineral disorders. 

Collectively, these contributions aim to inform clinical practice, stimulate research, and improve outcomes for patients with skeletal congenital bone disorders.

Journal Editor-in-Chief, Professor René Rizzoli, stated: “This issue serves to enrich our understanding and perspective in the field of rare bone disorders. We sincerely thank the special issue editor, Professor Maria Luisa Brandi, for her dedication to curating this exceptional issue, as well as the authors for their outstanding contributions.

We invite you to read and share the following articles below (or access them directly on the journal website compilation):

• Differential diagnosis of heritable and acquired osteomalacia in children: biochemical and biomaterial signatures
  Uday, S., Högler, W. (2025)
• The Diagnosis and Therapy of XLH
  Böckmann, I., Haffner, D. (2025)
• Grading Pseudofractures—The “Breach–Beak–Bump–Bridge” Approach
  Seefried, L., Rak, D. & Genest, F. (2025)
• Diagnosis and Treatment of Hypophosphatasia
  Seefried, L., Genest, F., Hofmann, C. et al. (2025)
• The Diagnosis and Therapy of Osteoporosis in Gaucher Disease
  Marcucci, G., Brandi, M.L. (2025)
• The Use of Bone Biomarkers, Imaging Tools, and Genetic Tests in the Diagnosis of Rare Bone Disorders
  Alsarraf, F., Ali, D.S. & Brandi, M.L. (2025)
• Treatment Advances in Tumor-Induced Osteomalacia
  Hartley, I.R., Roszko, K.L. (2025)
• The Management of Bone Defects in Rett Syndrome
  Caffarelli, C., Gonnelli, S. (2025)
• Bone Disease Associated with Inactivating Aromatase Mutations and its Management
  Cavati, G., Merlotti, D., Cardamone, P. et al. (2025)
• The Role of the European Reference Network for Rare Bone Diseases (ERN BOND) and European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) in the Governance of the Management of Rare Bone and Mineral Diseases
  Priego Zurita, A.L., Boarini, M., Casareto, L. et al. (2024)

For insights on Osteogenesis Imperfecta, we invite you to read our previous topical issue ‘Osteogenesis Imperfecta from Bench to Bedside and from Cradle to Grave’ for which we extend special thanks to Professors Lars Folkestad and Stuart H. Ralston in recognition of their expert contributions as special issue editors.

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About Calcified Tissue International & Musculoskeletal Research
Calcified Tissue International & Musculoskeletal Research is a peer-reviewed journal that publishes original preclinical, translational and clinical research, and reviews concerning the structure and function of bone, and other musculoskeletal tissues in living organisms, as well as clinical studies of musculoskeletal disease. It includes studies of cell biology, molecular biology, intracellular signalling, and physiology, as well as research into the hormones, cytokines, and other mediators that influence the musculoskeletal system. The journal also publishes clinical studies of relevance to bone disease, mineral metabolism, muscle function, and musculoskeletal interactions. https://www.springer.com/journal/223  

Editor-in-Chief: René Rizzoli; Associate Editor: Roland Chapurlat
Musculoskeletal Research Section Editor: Roger A. Fielding