Genetic/Bone Disease

Osteogenesis Imperfecta (Brittle Bone Disease)

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that primarily affect the bones. People with OI have bones that break easily, often from minor trauma or even with no apparent cause. Severity ranges from mild to severe. It is caused by mutations in genes responsible for producing type I collagen.

8

Symptoms

3

Causes

5

Treatments

1

Prevention

Condition Overview

Understand key symptoms, causes, diagnosis options, and treatment pathways for Osteogenesis Imperfecta (Brittle Bone Disease). This overview is intended for patient awareness and should be followed by specialist consultation.

GeneticBone DiseasePrevalence Available

Need Help?

Our specialists can guide you through symptoms and treatment options.

Book Appointment

24/7 Emergency: +91 1800-MEDICARE

Symptoms

  • Frequent bone fractures
  • Blue or grey sclera (whites of eyes)
  • Hearing loss in adolescence or adulthood
  • Loose joints and low muscle tone
  • Short stature
  • Scoliosis
  • Triangular face shape
  • Dental problems (dentinogenesis imperfecta)

Causes

  • Mutations in COL1A1 or COL1A2 genes (most common)
  • Autosomal dominant inheritance in most cases
  • New (de novo) mutations in 25% of cases

Diagnosis

  • Clinical assessment
  • X-rays (fractures, bone density)
  • Collagen biochemical studies
  • Genetic testing
  • DXA scan

Treatment

  • Bisphosphonates (pamidronate, zoledronate) to increase bone density
  • Physical and occupational therapy
  • Surgery (intramedullary rodding)
  • Fracture management
  • Gene therapy (experimental)

Risk Factors

  • Family history

Prevention

  • Genetic counseling for at-risk families

Prevalence

Affects approximately 1 in 15,000–20,000 people worldwide; about 25,000–50,000 Americans.

Back to All Conditions