Osteogenesis Imperfecta (OI)

Overview

What is osteogenesis imperfecta (OI)?

Osteogenesis imperfecta (OI) is a bone disease. People with OI have fragile bones that break easily, often with no apparent cause. Another name for OI is brittle bone disease.

What are the types of osteogenesis imperfecta?

Experts categorize OI into 19 types. Healthcare providers classify osteogenesis imperfecta as Type I through Type XIX.

The first four osteogenesis imperfecta types are the most common. These include:

  • Type I: This is the mildest and most common form of OI. Type I leads to broken bones (bone fractures) or muscle weakness. It doesn’t cause any bone deformity.
  • Type II: Babies born with Type II often can’t breathe and die young. Type II causes multiple broken bones even before the baby is born.
  • Type III: Babies often have broken bones at birth. Type III often leads to severe physical disabilities.
  • Type IV: Bones may break easily. Usually, children with this type have their first bone break before puberty. People with Type IV may have mild to moderate bone deformity.

Who might get brittle bone disease?

Anyone can be born with brittle bone disease. However, you are more likely to have OI if you have a family history of the disease.

How common is osteogenesis imperfecta?

Osteogenesis imperfecta is rare. It affects around 1 in every 20,000 people.

Symptoms and Causes

What causes osteogenesis imperfecta (OI)?

Osteogenesis imperfecta (OI) occurs because of a gene mutation (change). This mutation may be sporadic (random) or a baby may inherit the gene from one or both parents.

Some parents are carriers for the gene that causes OI. Being a carrier means you don’t have the disease yourself but can pass it down to your child.

Babies born with OI have a problem with making connective tissue due to a lack of type I collagen. Collagen is mostly found in bones, ligaments, and teeth. Collagen helps keep bones strong. As a result of the gene mutation, the body may not make enough collagen, and bones may weaken.

What are the symptoms of osteogenesis imperfecta?

Everyone who has osteogenesis imperfecta has brittle (weak) bones. Most people with the condition have broken bones over their lifetime. In severe forms, a person with OI may have hundreds of broken bones, even before birth.

Other osteogenesis imperfecta symptoms can include:

  • Bone deformity and pain.
  • Bruising easily.
  • Difficulty breathing.
  • Hearing loss.
  • Loose joints or muscle weakness.
  • Curved spine.
  • Small stature.
  • Triangular face shape.
  • Weak, brittle or discolored teeth.
  • Blue sclerae (bluish color of the whites of the eyes).

Diagnosis and Tests

How is osteogenesis imperfecta (OI) diagnosed?

Before birth, healthcare providers may detect possible OI through genetic testing. If one or both parents is a carrier for OI, a genetic counselor can guide parents about OI risks.

To confirm an OI diagnosis after a baby is born, healthcare providers may use:

  • Blood tests to check for gene mutations that indicate brittle bone disease.
  • Bone density tests, using low-dose X-rays across the body to measure mineral levels in bones.

Management and Treatment

How is osteogenesis imperfecta (OI) treated?

The goal of treatment is to increase bone strength and help people with OI live more independently. Osteogenesis imperfecta treatment may include:

  • Occupational therapy (OT): OT addresses fine motor skills, such as buttoning your shirt or tying your shoes.
  • Physical therapy (PT): Physical therapists prescribe exercises that increase strength, flexibility and range of motion.
  • Assistive devices: Aids such as walkers, canes or crutches can improve mobility.
  • Oral and dental care: OI can lead to tooth chipping, color changes or decay. People with the condition need regular dental checkups.
  • Medications: Depending on your symptoms, your provider may prescribe medicines that slow bone loss or treat pain.

What is the treatment for broken bones?

If you or your child breaks a bone, an orthopedic specialist (bone specialist) can treat it. Treatment may include:

  • Braces, splints or casts: An orthopedic specialist may use protective devices to stabilize broken bones during healing or after surgery.
  • Surgery: Your provider may operate to correct curved or misshapen bones. Rodding surgery is a common treatment for children with OI. It uses a rod to prevent bones from breaking. The rods also support bones. Some types can be adjusted as your child grows.

Is there a cure for brittle bone disease?

There is no cure for osteogenesis imperfecta. Depending on the type of OI, treatment plans focus on managing symptoms, increasing bone mass and improving strength.

What providers treat osteogenesis imperfecta?

People with OI need ongoing care throughout their lives. Your medical team might include:

  • Primary care provider or pediatrician.
  • Audiologists to diagnose and treat hearing problems and prescribe hearing aids .
  • Dental providers, including orthodontists and oral-maxillofacial surgeons.
  • Occupational therapists.
  • Orthopaedists, specialized doctors who diagnose and treat bone and joint problems and bone breaks, including performing surgery.
  • Physical therapists.

Prevention

How can I prevent brittle bone disease?

Because brittle bone disease is a genetic condition, you cannot prevent it. If you or your partner has OI or have a relative with the condition, speak with a genetic counselor. They can advise you about the risks of passing on the condition.

Outlook / Prognosis

How can I improve bone health with osteogenesis imperfecta (OI)?

Depending on the OI type, many people can live a high quality of life with osteogenesis. People with OI can improve bone health by:

What is the life expectancy of someone with osteogenesis imperfecta (OI)?

Life expectancy varies greatly depending on OI type. Babies with Type II often die soon after birth. Children with Type III may live longer, but often only until around age 10. They may also have severe physical deformities.

People with Type IV generally live into adulthood but may have a slightly shortened lifespan. People with Type I generally have a typical lifespan.

Living With

What else should I ask my healthcare provider?

You may also want to ask your healthcare provider:

  • What should I know about my child’s life expectancy with OI?
  • How can I help my child manage OI symptoms?
  • What should I do if my child breaks a bone?
  • What are the chances that I will have another child with osteogenesis imperfecta?

A note from Cleveland Clinic

Osteogenesis imperfecta is a genetic bone disease. People born with the condition have bones that break easily. There are several types of osteogenesis imperfecta. Some types are more severe. Babies born with severe OI often don’t live past a few days or weeks of life. Other OI types are manageable. Babies born with mild types of OI can live healthy lives into adulthood. Osteogenesis imperfecta treatment focuses on increasing bone strength and improving quality of life.

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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy

Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy