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Osteogenesis Imperfecta (OI)

The condition

Osteogenesis Imperfecta (OI) or Brittle Bone Disease is a genetic condition characterised by bones that break easily. It can be mild or severe and this varies from person to person so a classification system has been identified to describe the different types of OI. For example, a person may have just a few or as many as several hundred fractures in a lifetime. As well as frequent fractured bones, people with OI often have muscle weakness, hearing loss, fatigue, joint laxity, curved bones, scoliosis, blue sclerae, dentinogenesis imperfecta (brittle teeth), and short stature amongst other medical problems. These all mean that care of a child or young person with OI benefits from input form a number of health professionals.

The service

The Bristol Osteogenesis Imperfecta (OI) Service provides expert care to children and young people with a diagnosis of OI. Our aim is to provide expert care to help affected children and young people and their families experience improved outcomes and quality of life, with fewer complications.

Our Service sees children with OI from across the South West of England and further afield. This is in a multidisciplinary clinic led out of Bristol, reaching out elsewhere in the South West. Care is delivered in clinics, home and and community and hospital stays for specialised treatments, intensive therapy inputs and expert orthopaedic surgery.

NHS England commission Bristol as a provider trust as a centre for Complex, Severe or Atypical Childhood Osteogenesis Imperfecta. As one of the four such centres in England, we work together to improve care.

Our expert care is recognised internationally through our membership as a Healthcare Provide in the European Reference Network for Rare Bone Disease.

Our Service offers patients and their families to be involved in leading research and recruit to several international multicentre trials exploring new treatments in OI.

We work closely with the Brittle Bone Society for patient support and to provide Patient Information Days. 

We also see children with rare bone disorders other than OI, either in our main endocrine clinic or in your Bristol Skeletal Dysplasia Service. Please see the endocrine tab above.