Overview
Osteogenesis imperfecta ranges from mild to severe. Treatment can strengthen bones and reduce fractures.
Symptoms
- Bones that break easily, sometimes with little or no injury
- Bone deformities
- Short stature
- Blue-tinged whites of the eyes
- Hearing loss
- Brittle teeth
Causes and risk factors
It is usually caused by changes in genes that make collagen, a protein that strengthens bones.
Diagnosis
Diagnosis is based on symptoms, X-rays, bone density scans and genetic tests.
Treatment
Treatment includes bisphosphonate medicines, physiotherapy, surgery to support bones with rods and safe activity.
When to see a doctor
See a doctor if a child has repeated fractures after minor injuries.
This information is for general education and does not replace advice from a qualified doctor. For a medical emergency, call +92-51-8446666 or go to the nearest emergency department.
