Osteogenesis imperfecta also called “Brittle Bone Disease” comprises a heterogeneous group of heritable disorders. The disorders are frequently associated with blue sclerae, dental abnormalities (dentinogenesis imperfecta), progressive hearing loss, and a positive family history.

Most patients have mutations in one of the two genes coding for Type I collagen

More than 90% of cases exhibit an autosomal dominant inheritance

Commonly mutated genes are COL1A1 and COL1A2

This condition represents one of the most common heritable bone diseases, with a worldwide prevalence of approximately 6 to 7 per 100,000 population.

Osteogenesis imperfecta visual mnemonic