Children's Hospital Colorado

Osteogenesis Imperfecta

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What is osteogenesis imperfecta (brittle bone disease)? 

Osteogenesis imperfecta is a genetic condition that causes children’s bones to develop differently and break easily, often for no apparent reason. Osteogenesis imperfecta is also called brittle bone disease.

Osteogenesis imperfecta can range from mild to severe, depending on the type.

Types of osteogenesis imperfecta

The four most common types of osteogenesis imperfecta are:

  • Type I (one): This is the most common and least severe type of osteogenesis imperfecta. Children with this type get bone fractures or muscle weakness but they often don’t have irregularly shaped bones (bone deformities).
  • Type II (two): This is the most severe form of osteogenesis imperfecta. Babies with this type are born with multiple broken bones, have extreme breathing difficulties and usually survive for only a short period after birth.
  • Type III (three): Babies have broken bones at birth and usually have significant physical challenges as they grow. Children may have irregularly shaped bones, brittle teeth, breathing difficulties or hearing loss.
  • Type IV (four): This is the most variable form of osteogenesis imperfecta. Children have bones that fracture easily, sometimes fracturing in infancy, but more often their first fracture is later in childhood.. They generally have fewer fractures than children with Type III and may have irregularly shaped bones.

What causes osteogenesis imperfecta?

Osteogenesis imperfecta occurs because of a change (mutation) in the gene responsible for making collagen. Collagen is a protein that’s important for building bones.

Sometimes children inherit the gene mutation from one of their parents. In other children the genetic change happens randomly.

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