How common is Osteogenesis Imperfecta?

By  ,  Onlymyhealth editorial team
Sep 23, 2014

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Quick Bites

  • Osteogenesis imperfect is a disorder of bones.
  • The disorder is present at the time of birth.
  • Osteogenesis imperfect increases risk of fractures.
  • Patients with this disorder often have short statures.

What is Osteogenesis Imperfecta?

A condition which causes extremely delicate bones is known as osteogenesis imperfecta.

Osteogenesis Imperfecta Understanding

What Causes the Osteogenesis Imperfecta?

Osteogenesis imperfect (OI) is a congenital disease which means that the disorder is present at the time of birth. The cause of this disorder is the defect in the gene that produces type 1 collagen which is vital for building block of bone.

What are the Symptoms of Osteogenesis Imperfecta?

People who suffer from OI have weak bones which puts them at a risk of fractures. OI patients have a below average height. The severity of this diseases varies vastly and the most common symptoms that can be seen include:

  • A blue hint to the whites of the eyes
  • Multiple bone fractures
  • Loss of hearing abilities

As the type I collagen can be found in ligaments, people suffering from OI often have loose joints and flat feet. In some cases, OI can also lead to the development of poor teeth.
In cases of severe OI the symptoms may include:

  • Bowed legs and arms
  • Kyphosis
  • Scoliosis

Osteogenesis Imperfecta Understanding


What is the Prognosis for OI?

How a person performs after suffering from OI depends on the type of OI they suffer from.

Type I or mild OI is the most common form. People who suffer from this type can lead a normal life.

Type II is a more severe type which can lead to the death in the first year of life.

Type III which is also known as severe OI, patients can suffer from many fractures starting at very early stage of life and can also have severe bone deformities. In many cases, patients become wheelchair bound and have a very short life expectancy.

Type IV is a moderately severe OI and is somewhat similar to type I. Patients suffering from this type of OI often need braces or crutches to walk but, the life expectancy is normal or almost normal.

How common is OI?

OI occurs in approximately 1 in 20,000 individuals, including people diagnosed after birth. OI occurs with equal frequency among males and females and among racial and ethnic groups. Life expectancy varies depending on how severe the OI is, ranging from very brief (lethal form, OI type II) to average.

Image courtesy: Getty Images

Read more on Undersatnd Osteogenesis Imperfect.

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