Rare Bone Diseases
ERN BOND brings together all rare diseases, essentially congenital, chronic and of genetic origin, that affect cartilage, bones and dentine. This considerable group of diseases present a significant variation in clinical outcomes and limited research program are currently available to clarify their physiopathological bases. This large field may be shared in two main categories, skeletal dysplasias and metabolic bone diseases.
The tenth version of the Nosology and Classification of Genetic Skeletal Disorders revised in 2019 comprises 461 different diseases that are classified into 42 groups based on their clinical, radiographic, and/or molecular phenotypes. (Mortier, et al. Am J Med Genet A. 2019).
The principles of diagnosis, management and follow up are quite overlapping, giving a greater coherence and consistency for categorization.
- Osteogenesis imperfecta (OI)
- Achondroplasia (ACH)
- X-linked hypophosphatemia (XLH)
- Hypophosphatasia (HPP)
- Multiple osteochondromas (MO)
- Fibrous dysplasia/McCune-Albright syndrome (FD/MAS)
- Pseudohypoparathyroidism (PHP)