Rare Disease Day, marked on the last day of February each year, is a global opportunity to raise awareness for rare diseases that, although rare, affect 300 million people worldwide, their families, and carers.

Importance of improving clinical knowledge about Skeletal Rare Disorders

Skeletal disorders represent a significant portion of the known rare diseases and include osteogenesis imperfecta, fibrous dysplasia, hypophosphatasia, and X-linked hypophosphatemia, among others. Current advances in researchers’ understanding of the mechanisms of rare bone diseases, and, crucially, in the availability of diagnostic methods and effective treatments, offer new hope for many people with rare skeletal diseases. Nevertheless, the diseases continue to suffer from a lack of attention at many levels.

Efforts must be made to improve awareness and understanding of rare bone disorders so that healthcare professionals who are not specialists in these conditions are better able to accurately recognize and manage such conditions. By doing so, patients can take advantage of the latest advancements in diagnostics and targeted therapies, promising significant improvements in their quality of life. As an organization, the International Osteoporosis Foundation (IOF) has therefore been committed to providing an accessible knowledge base and disseminating clinical information to improve understanding, diagnosis, and management of rare skeletal disorders.

Access these resources to advance your clinical knowledge:

Fact sheets, with key information and diagnostic algorithms

• X-linked hypophosphatemic rickets (XLH) is a rare inherited form of renal phosphate wasting disorder, but among the inherited forms it is the most common with an estimated prevalence of 1/20,000 births. Download XLH Fact Sheet
• Tumor-induced osteomalacia (TIO) is a rare acquired paraneoplastic syndrome characterized by abnormal phosphate and vitamin D metabolism caused by small endocrine tumors called phosphaturic mesenchymal tumors (PMTs). This IOF fact sheet provides key information and a diagnostic algorithm. Download TIO Fact Sheet

Educational sessions by leading experts

Click here to view the following on the IOF Educational Hub:

Podcasts

• Challenges In Screening, Diagnosis And Management Of Fgf-23 Hypophosphatemic Diseases, 
  Speakers: Assoc. Prof. K. Javaid  and  Prof. M. Chandran
• The Impact Of Chronic Hypophosphatemia On Multiple Body Systems Over The Life Course,
  Speakers: Assoc. Prof. K. Javaid and Prof. ML.  Brandi

Webinars

• Fibrous Dysplasia Of Bone/Mccune-Albright Syndrome, An Update, Speaker: Dr R. Chapurlat
• Importance Of Phosphate Homeostasis Throughout Life, Speaker: Dr G. Marcucci
• Hypophosphatasia Current Practice, Diagnosis & Management In Adults, Speaker: Prof. ML. Brandi
• Skeletal Rare Diseases: The Next Frontier For The Bone Doctor, Speaker: Prof. ML. Brandi
• Hypoparathyroidism Diagnosis And Advances In Management In 2020, Speaker: Prof. A. Khan

Researchers will also find valuable information in the IOF Skeletal Rare Disorder subsite which includes a  unique Atlas Of Rare Genetic Metabolic Bone Disorders that classifies more than 90 rare genetic metabolic bone disorders according to their metabolic pathogenesis.

IOF CEO Dr Philippe Halbout stated:

“Rare diseases pose enormous challenges to patients and their families. On Rare Disease Day we urge healthcare professionals to improve their knowledge of skeletal rare diseases and we call on healthcare authorities to facilitate greater access to diagnosis, novel treatments, and long-term support for patients worldwide.”

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About IOF

The International Osteoporosis Foundation (IOF) is the world's largest nongovernmental organization dedicated to the prevention, diagnosis, and treatment of osteoporosis and related musculoskeletal diseases. IOF members, including committees of scientific researchers as well as more than 330 patient, medical and research organizations, work together to make fracture prevention and healthy mobility a worldwide healthcare priority. https://www.osteoporosis.foundation @iofbonehealth