Osteogenesis Imperfecta

Osteogenesis imperfecta (OI), also called 'brittle bone disease,' is a group of genetic disorders affecting collagen production. It causes bones that fracture easily, along with other features depending on type.

Table of Contents

Features

  • Frequent fractures with minimal trauma
  • Blue or gray sclerae (whites of eyes)
  • Hearing loss in adulthood
  • Short stature
  • Brittle teeth
  • Bone deformities in severe forms

Treatment

  • Bisphosphonates to strengthen bone
  • Orthopedic surgery for fractures and deformities
  • Physical and occupational therapy
  • Hearing aids when needed
  • Dental care
  • Genetic counseling
Medical Disclaimer: This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider with questions about a medical condition. If you are experiencing a medical emergency, call your local emergency number immediately.

References

  • OI Foundation. Patient Resources.