What is osteogenesis imperfecta?

Osteogenesis imperfecta (OI) is a disease that causes your bones to break (fracture) easily. OI is also called brittle bone disease. Your symptoms may be mild or severe, depending on the type of OI you have.

Who gets osteogenesis imperfecta?

Anyone can be born with OI, but people who have family members that have it are more likely to get it. 

What are the types of osteogenesis imperfecta?

There are many types of OI. Symptoms vary depending on the type you have. Type I is the mildest and most common form of OI. Type II is the most severe form. Other types of OI have symptoms that fall between Type I and Type II.

What are the symptoms of osteogenesis imperfecta?

All people with OI have weak, brittle bones. Some people with OI may have only a few broken bones over their lifetime. Others may have hundreds of broken bones.

People with OI may have other symptoms, such as:

  • Misshapen or bowing of long bones.
  • Height that is short, below average.
  • Skin that bruises easily.
  • Loose joints.
  • Weak muscles.
  • Whites of the eyes that look blue, purple, or gray.
  • A face shaped like a triangle.
  • A rib cage shaped like a barrel.
  • A curved spine.
  • Collapse of the vertebrae in the spine.
  • Brittle, misshapen, or discolored teeth.
  • Hearing loss.
  • Breathing problems.
  • A malformed hip joint.

What causes osteogenesis imperfecta?

A change in a gene causes OI. People with OI have a gene that carries the wrong instructions for making collagen, a substance that makes bones strong. You might get this changed gene from one or both parents, or the gene might stop working properly on its own.