Osteogenesis Imperfecta

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.

Causes #

• 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.

Types #

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.

Symptoms #

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 #

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.

Treatment #

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.

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.