Osteogenesis Imperfecta | brittle bone disease

Osteogenesis Imperfecta is a congenital disorder characterised by brittle bones that are prone to fracture and other features like blue sclera , hearing impairment and discoloured teeth. It is caused by defective collagen synthesis (specifically type 1 collagen). There are many different subtypes of OI and the range of clinical features and severity is vast. There is no cure but treatment may involve medications like bisphosphonates and growth hormone, surgery to fix or prevent fractures or fix deformities, plus lots of physio and  OT interventions.

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(This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)