To mark Rare Disease Day, February 29th, the International Osteoporosis Foundation (IOF) calls on governments and healthcare authorities to act on behalf of the millions of people affected by rare skeletal disorders.

There are over 300 million people living with rare diseases around the world, affecting 3.5% - 5.9% of the worldwide population. Approximately 72% of rare diseases are genetic with 70% of those genetic rare diseases starting in childhood.1  Genetic disorders specifically involving the skeletal system represent a significant portion of the known rare diseases, including the more commonly known such as Gaucher’s disease, osteogenesis imperfecta, fibrous dysplasia, hypophosphatasia, osteopetrosis  and X-linked hypophosphatemia, among others.

Altogether, more than 430 genetic disorders of the skeleton have been identified so far.2 Because of their diverse signs and symptoms, these rare bone disorders pose a diagnostic challenge even to seasoned specialists, let alone to the average clinician who rarely, if at all, actually sees a paediatric patient with a skeletal rare disease.

IOF President Cyrus Cooper stated: "Rare diseases suffer from lack of attention at many levels, and pose enormous challenges to patients and their families. IOF marks Rare Disease Day as an occasion to call on health authorities to support research as well as improved patient care, including through greater access to diagnosis, novel treatments and long-term support."

Recent 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.

Professor Cooper added: "IOF also reaffirms its commitment to providing targeted healthcare professional training and support for continued research in the field so that new advances can be effectively translated into improved diagnosis and care for patients worldwide.”

IOF’s landmark Skeletal Rare Disorders Course has provided much needed training for hundreds of medical professionals around the world. The 2019 publication of a widely disseminated fact sheet on X-linked hypophosphatemia (XLH) provides a diagnostic algorithm to help clinicians evaluate patients who may present with the disorder. Importantly, IOF hosts an online taxonomy which gives detailed information about more than 90 of the main rare skeletal diseases that affect the skeleton, outlined in four subcategories. We also look forward to holding the Joint Symposium of the IOF Skeletal Rare Diseases Working Group (SRD-WG) and the a European Reference Network on Rare Bone Diseases (ERN-BOND) on April 3, 2020 during the World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases in Barcelona.


2. Bonafe L et al. Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A. 2015

About Rare Disease Day
Rare Disease Day takes place on the last day of February each year. Its main objective is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people worldwide.

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 experts as well as more than 260 patient, medical and research societies in 100 countries, work together to make fracture prevention and healthy mobility a worldwide heath care priority.