Rare Bone Disease Care
Specialist assessment, monitoring and long-term management for adults living with rare inherited and metabolic bone disorders, helping optimise bone health, mobility and quality of life.
Rare bone diseases often require highly specialised knowledge and long-term follow-up. Professor Keen has extensive experience managing complex inherited and metabolic bone conditions.
Specialist care for complex bone disorders
Rare bone diseases affect bone development, strength, mineralisation or remodelling. Many are lifelong conditions that benefit from specialist oversight, careful monitoring and individualised treatment planning.
Rare and often lifelong conditions
Although uncommon individually, rare bone diseases can have significant effects on bone strength, fracture risk, growth, mobility and long-term quality of life.
Personalised management
Every rare bone disorder presents differently. Care is tailored to the individual's diagnosis, symptoms, complications and treatment goals.
Examples of rare bone diseases
Professor Keen has extensive experience caring for adults with a wide range of inherited and metabolic bone disorders.
Inherited bone disorders
- Osteogenesis Imperfecta
- X-linked Hypophosphataemic Rickets (XLH)
- Osteopetrosis
- Familial bone fragility syndromes
- Inherited phosphate disorders
Metabolic bone disorders
- Rare mineralisation disorders
- Complex calcium and phosphate disorders
- Unusual bone turnover disorders
- Rare skeletal syndromes
- Undiagnosed complex bone conditions
What the consultation may include
The aim is to understand your diagnosis, assess current bone health and develop an appropriate long-term management strategy.
Previous diagnoses, investigations and specialist reports are reviewed.
Symptoms, fracture history, mobility and wider health factors are discussed.
Blood tests, scans, imaging and genetic results are assessed where available.
A tailored strategy is developed for treatment, monitoring and future care.
How rare bone disease care may help
Management focuses on maintaining bone health, reducing complications and supporting long-term wellbeing.
Specialist monitoring
- Regular review of bone health
- Monitoring of disease progression
- Assessment of fracture risk
- Review of blood tests and imaging
- Coordination with specialist centres
Treatment planning
- Medication review and optimisation
- Bone health support
- Mobility and rehabilitation advice
- Lifestyle and fracture prevention guidance
- Access to emerging therapies where appropriate
Rare bone disease questions
Common questions about inherited and metabolic bone disorders.
What counts as a rare bone disease?
Rare bone diseases are uncommon disorders affecting bone development, strength, structure or metabolism. Examples include Osteogenesis Imperfecta, XLH and Osteopetrosis.
Do these conditions continue into adulthood?
Yes. Many rare bone diseases are lifelong conditions that require ongoing monitoring and specialist support throughout adulthood.
Can treatment improve symptoms?
While many rare bone disorders cannot be cured, treatment can often improve symptoms, support bone health and reduce complications.
How often should monitoring occur?
Monitoring varies depending on the condition, symptoms and treatment plan. Some patients require annual review while others may need more frequent follow-up.
Book a rare bone disease consultation
If you have a diagnosed or suspected rare bone disorder and would like specialist advice, monitoring or treatment planning, please contact the office to arrange a consultation.
Contact details
For private appointments and general enquiries, please contact Professor Keen's office.