Osteogenesis Imperfecta

By: Elisa Romero

What is Osteogenesis Imperfecta?

Osteogenesis Imperfecta (OI) is a genetic bone disorder characterized by fragile bones that break easily. It is also known as “brittle bone disease.” The term literally means “bone that is imperfectly made from the beginning of life.” A person is born with this disorder and is affected throughout his or her life time.

Signs and Symptoms:

  • muscle weakness
  • hearing loss
  • fatigue
  • joint laxity
  • curved bones
  • short stature

Pathogenesis:

Osteogenesis Imperfecta is caused by an error called a mutation on a gene that affects the body’s production of the collagen found in bones, and other tissues. It is not caused by too little calcium or poor nutrition.

How do you manage Osteogenesis Imperfecta?

More Information on Oesteogenesis Imperfecta

Diagnosis:

Diagnosis for OI is primarily based on signs seen in a doctor’s examination. When there is uncertainty about the diagnosis, it is best to consult a physician who is familiar with OI. Genetic testing is available to confirm a diagnosis of OI through collagen or gene analysis—a skin sample or a blood sample are used to study the amount of Type I collagen or to do a DNA analysis

Prognosis:

The prognosis for a person with OI varies greatly depending on the number and severity of symptoms.

o Life expectancy is not affected in people with mild or moderate symptoms.

o Life expectancy may be shortened for those with more severe symptoms.

Epidemiology:

Osteogenesis Imperfecta occurs with equal frequency among males and females and among all racial and ethnic groups
  • Approximately 35% of children with OI are born into a family with no family history of OI. Most often this is due to a new mutation to a gene and not by anything the parents did before or during pregnancy.