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. These 2 categories themselves are subdivided in several thematic and sub thematic groups.
The nosology and classification of genetic skeletal dysplasia delineated in 2015 more than 430 various rare disorders and more than fifty specific metabolic bone diseases. (Bonafe et al. Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet Part A , 2015).
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)