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.
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.
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.
Babies born with Type II often can’t breathe and die young. Type II causes multiple broken bones even before the baby is born.
Babies often have broken bones at birth. Type III often leads to severe physical disabilities.
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.
Other osteogenesis imperfecta symptoms can include:
Bone deformity and pain.
Loose joints or muscle weakness.
Triangular face shape.
Weak, brittle or discolored teeth.
Blue sclerae (bluish color of the whites of the eyes).
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.
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.
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.
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.
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.⌖ diseases treatments health skeletal-system osteogenesis-imperfecta disorders prevention