Osteogenesis imperfecta and brittle bone disease care
Osteogenesis imperfecta, often called brittle bone disease, is a rare genetic condition that affects bone strength. It can lead to bones breaking more easily, sometimes after minor injury or with no obvious cause.
Osteogenesis imperfecta can vary from mild to severe. Specialist assessment helps clarify fracture risk, wider complications and long-term bone health planning.
Osteogenesis imperfecta is a lifelong condition that can affect bone strength and more than just the skeleton.
Osteogenesis imperfecta is usually caused by a genetic change affecting collagen, an important protein that helps give bone its structure and strength. The condition can cause fragile bones, repeated fractures and skeletal changes, but the severity varies widely from person to person.
Some people have a mild form with relatively few fractures, while others have more complex symptoms involving mobility, spine shape, pain, hearing, teeth, muscle strength or joint flexibility. A specialist review can help make sense of the diagnosis and guide appropriate monitoring and treatment.
- Assessment of suspected or confirmed osteogenesis imperfecta
- Review of recurrent fractures, bone density and family history
- Advice on fracture prevention, monitoring and long-term bone health
- Specialist input for adults with rare or inherited bone disorders
What osteogenesis imperfecta can look like
Symptoms and severity vary widely. Some people have frequent fractures from childhood, while others are diagnosed later after repeated fractures, low bone density or a family history of brittle bone disease.
Frequent fractures
Bones may break more easily, sometimes after minor injury or with no obvious cause.
Bone pain
Some people experience ongoing bone pain, fracture-related pain or discomfort linked to skeletal changes.
Joint laxity
Loose or flexible joints can affect stability, movement, comfort and injury risk.
Curved bones or scoliosis
Some forms can cause bone deformity, bowing of the limbs or curvature of the spine.
Hearing or dental issues
Some people develop hearing loss or dentinogenesis imperfecta, which can affect the teeth.
Fatigue and weakness
Muscle weakness, fatigue, reduced endurance or mobility issues may affect daily life.
Why osteogenesis imperfecta happens
Osteogenesis imperfecta is usually caused by a genetic change that affects type I collagen, a key building block of bone and other connective tissues. It may be inherited from a parent or occur for the first time in a family.
The condition has several types and can vary greatly in severity. Because it may affect more than bone alone, assessment often needs to consider mobility, pain, hearing, dental health, spine shape and family history.
How osteogenesis imperfecta is assessed
Diagnosis may involve clinical history, fracture history, examination, family history, imaging, DEXA bone density scanning and genetic testing where appropriate.
In adults, specialist review is often helpful when there is a known diagnosis, repeated fractures, unexplained low bone density, uncertainty about treatment or concerns about long-term monitoring.
Care focuses on reducing fractures and supporting function
Management is usually personalised and may include fracture prevention, treatment of fractures, pain management, physiotherapy, exercise guidance, mobility support, vitamin D optimisation and specialist medication in selected cases.
Some patients may also need coordinated input from orthopaedics, physiotherapy, audiology, dentistry, genetics or other specialist services depending on their symptoms and stage of life.
Related treatments and services
Osteogenesis imperfecta can affect bone strength, fracture risk, mobility and long-term musculoskeletal health. Specialist assessment can help review bone density, fracture history, symptoms, wider metabolic factors and the most appropriate management options.
A specialist consultation for brittle bone disease
Professor Keen will review your diagnosis, fracture history, previous scans, blood tests, medication history, family history, mobility, pain, hearing or dental concerns and any previous specialist input.
The consultation can help clarify current bone health, whether further assessment is needed and what long-term monitoring or treatment plan may be appropriate.
Osteogenesis imperfecta questions
Common questions from patients with suspected or confirmed osteogenesis imperfecta, also known as brittle bone disease.
Is osteogenesis imperfecta the same as osteoporosis?
No. Osteogenesis imperfecta is usually a genetic condition affecting collagen and bone strength. Osteoporosis is more commonly related to reduced bone density and fracture risk, often developing later in life.
Can adults have osteogenesis imperfecta?
Yes. Osteogenesis imperfecta is lifelong. Some adults have a known childhood diagnosis, while others may only be recognised later after fractures, low bone density or family history prompts investigation.
Can osteogenesis imperfecta be treated?
There is no simple cure, but treatment and monitoring can help reduce fracture risk, support mobility, manage pain and address associated issues. Some patients may benefit from specialist medications.
Does osteogenesis imperfecta only affect bones?
No. It can also affect joints, muscles, teeth, hearing, spine shape, growth and energy levels depending on the type and severity.
When should I see a specialist?
Specialist advice is helpful if you have repeated fractures, a known diagnosis of osteogenesis imperfecta, unexplained low bone density, family history of brittle bone disease or uncertainty about monitoring and treatment.
Arrange a specialist osteogenesis imperfecta appointment
If you have osteogenesis imperfecta, repeated fractures, suspected brittle bone disease or concerns about long-term rare bone disease care, please contact the practice to arrange an appointment.
Contact details
For private appointments and general enquiries, please contact the office.