Osteogenesis Imperfecta

Definition

Osteogenesis imperfecta is an inherited disease characterized by bone fragility.

Symptoms

  • Frequent bone fractures
  • Blue sclera
  • Hearing loss
  • Dental anomalies

Reasons

Type 1 collagen gene mutations.

Diagnosis

Clinical findings, genetic testing.

Treatment

Bisphosphonates, physical therapy.

Which Polyclinic Should You Apply To?

Genetics Polyclinic

What to Do in an Emergency?

In case of bone fracture, emergency services should be consulted.

This page is for general information purposes only.