Osteogenesis imperfecta is a genetic condition that results in brittle bones that are prone to fractures. It is also known as brittle bone disease. There are multiple types of osteogenesis imperfecta, varying in severity.
It is caused by a range of genetic mutations that affect collagen formation, usually type 1 collagen. Collagen is a protein essential for maintaining the structure and function of bone, skin, tendons, and other connective tissues.
Presentation
Osteogenesis imperfecta typically presents with recurrent fractures after minimal or absent trauma.
There are several associated features:
- Joint hypermobility
- Blue/grey sclera
- Triangular face
- Short stature
- Muscle weakness
- Hearing loss, often developing in adolescence or early adulthood
- Dentinogenesis imperfecta, causing discoloured and fragile teeth
- Bone deformities, such as bowed legs and scoliosis
- Joint and bone pain
TOM TIP: An exam patient with blue sclera should make you think of osteogenesis imperfecta. The description may be of a young child with unusual and recurrent fractures that would normally raise concerns about safeguarding. Additional clues include joint hypermobility, triangular face and short stature.
Management
Osteogenesis imperfecta is diagnosed based on the clinical presentation, x-ray findings and genetic testing.
The underlying genetic condition cannot be cured. Medical treatments include:
- Bisphosphonates to increase bone density
- Vitamin D supplementation to prevent deficiency
- Analgesia for pain
Management is coordinated by the multidisciplinary team, including:
- Physiotherapy and occupational therapy to maximise strength and function
- Paediatricians for medical treatment and follow-up
- Orthopaedic surgeons to manage fractures
- Dentists to manage dental complications
- Specialist nurses for advice and support
- Psychologists for psychological support
Last updated July 2026
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