Osteogenesis imperfecta

Osteogenesis imperfecta (OI) describes a group of rare heritable disorders of connective tissue characterized by varying degrees of low bone mass and increased susceptibility to fractures. Most cases of OI are due to heritable defects in the synthesis or metabolism of type I collagen. The resulting bone tissue is prone to fracture due to a combination of alterations in both material and architectural qualities. The range of OI encompasses antenatal lethality to individuals with only small numbers of fractures. There are various classifications of OI, some of which have expanded along with understanding of the genetic diversity of rarer forms of OI. Accurate diagnosis at the earliest opportunity is important because specialist multidisciplinary input can dramatically improve outcomes in both the short and long term. Bisphosphonates are widely recognized as standard of care in childhood OI but the maximum benefits are only realized alongside the delivery of a multidisciplinary package of care including physiotherapy. There should be a planned and timely transfer of care to an appropriately skilled team based in adult services.