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Osteogenesis Imperfecta
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Genetics Birth Defects

Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a genetic disorder that impacts collagen production, leading to fragile bones and other physical complications.

Overview

Osteogenesis imperfecta (OI) is a genetic disorder in which bones fracture (break) easily. Sometimes the fractures happen for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly. When these genes don't work, it affects how you make collagen, a protein that helps make bones strong.

Symptoms and Severity

OI can range from mild to severe, and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime.

Diagnosis and Management

There is no specific test for OI. Your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Your doctor may also test your collagen (from skin) or genes (from blood).

There is no cure, but you can manage symptoms. Treatments include:

  • Exercise
  • Pain medicine
  • Physical therapy
  • Wheelchairs
  • Braces
  • Surgery

Frequently Asked Questions

Many OI patients have dentinogenesis imperfecta, leading to translucent, fragile teeth that wear quickly. Regular dental visits every 6 months, use of fluoride toothpaste, and a soft‑bristled brush are essential. A dentist experienced with OI may recommend protective crowns or bonding to prevent breakage, and orthodontic treatment should be coordinated with the orthopedic team.
Bisphosphonates (e.g., pamidronate, zoledronic acid) are the most commonly used drugs; they increase bone density and can reduce fracture frequency. Intravenous infusions are given every 3‑6 months. Potential side effects include acute flu‑like reactions, low calcium levels, and, rarely, osteonecrosis of the jaw. Newer agents such as denosumab or sclerostin antibodies are under investigation but not yet standard.
Hearing loss occurs in up to 50% of individuals with OI, usually due to abnormalities of the middle ear bones or inner ear structures. It often presents in the 20s‑30s but can appear earlier. Baseline audiometry is recommended in adolescence, with repeat testing every 2‑3 years or sooner if symptoms (e.g., muffled sounds, difficulty hearing conversations) arise. Hearing aids or surgical options can improve quality of life.
Use protective gear (helmets, padded clothing), avoid high‑impact sports, and encourage low‑impact activities like swimming or cycling. Child‑proof the home (soft flooring, padded corners, grab bars), keep furniture stable, and educate caregivers on safe handling techniques. Regular physiotherapy improves muscle strength and joint stability, which further reduces fracture likelihood.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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