Osteogenesis imperfecta

Also called Brittle bone disease, OI

A genetic condition causing fragile bones. And a family history that has to be documented, because safeguarding processes will ask.

What it is

Osteogenesis imperfecta is a genetic condition affecting collagen, the protein that gives bone its flexibility. Bones fracture easily, sometimes from very minor force.

It affects around 1 in 15,000 people in the UK. Severity ranges enormously, from a person who has a handful of fractures in childhood to one who is born with multiple fractures already present.

There is a particular burden that no other condition here carries in quite the same way: families with undiagnosed OI have been investigated for suspected non-accidental injury. That experience is traumatic and it is why documentation and a clear diagnosis matter so much.

Signs you might notice

Fractures from minimal force, often multiple, starting in childhood.

Blue or grey tinge to the whites of the eyes, which is a classic sign.

Short stature, curved spine, hearing loss developing in adulthood.

Teeth that are discoloured, brittle and prone to breaking.

Joint hypermobility, and easy bruising.

Chronic pain and fatigue, both under-recognised in adults.

How it can affect day-to-day life

The balance between protection and living is the daily question. Over-protection costs muscle, bone density and childhood; under-protection costs fractures. Physiotherapy and swimming are usually the way through.

Adults with OI are frequently discharged from services after childhood and then have no specialist to consult, exactly as in cerebral palsy.

Hearing loss develops in a substantial proportion of adults and is easily missed.

Pain management is often inadequate because the condition is thought of as a childhood one.

Supporting someone well

Get the diagnosis documented clearly and carry it. If a fracture takes you to A and E, that documentation prevents a very distressing conversation.

Keep active within sensible limits. Swimming and hydrotherapy build strength without loading bones.

Attend for bisphosphonate treatment where prescribed, which reduces fracture rates.

Get hearing checked in adulthood, and see a dentist who knows about dentinogenesis imperfecta.

Ask for adult specialist follow-up rather than accepting discharge at 18.

Take chronic pain seriously and treat it.

Where to get help

England has a specialised OI service for children and adults; ask for referral.

The Brittle Bone Society run a helpline and can support families facing safeguarding enquiries.

Any suspected fracture needs assessment, and mentioning OI at triage changes how it is handled.