Osteogenesis imperfecta
ORPHA:666· ICD-10 Q78.0
Definition
A rare, genetic, primary bone dysplasias characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures. The clinical severity is heterogeneous.
- Prevalence
- 1-5 / 10 000
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- All ages