What is Osteogenesis Imperfecta?
Also know as Brittle bone disease
Congenital Hand Disorders
Osteogenesis imperfecta (OI) is a condition causing extremely fragile bones. It is a congenital disease, meaning it is present at birth and is frequently caused by defect in the gene that produces type 1 collagen, an important building block of bone. There are many different defects that can affect this gene. The severity of OI depends on the specific gene defect.
Symptoms of Osteogenesis Imperfecta
All people with OI have weak bones, which makes them susceptible to fractures. The severity of the disease varies greatly.
- Blue tint to the whites of their eyes (blue sclera)
- Multiple bone fractures
- Early hearing loss (deafness)
- Loose joints (hypermobility) and flat feet.
Symptoms of more severe forms of OI may include:
- Bowed legs and arms
- Scoliosis (S-curve spine)
- Often below the average height
Diagnosis and Treatment
OI is usually suspected in children whose bones break with very little force. A physical examination may show that the whites of their eyes have a blue tint. A family or the child can also be given a genetic test (a blood test) to determine the diagnosis.
While there is not yet a cure for this disease, there are therapies that help reduce the pain and complications associated with OI.
Bisphosphonates drugs can increase the strength and density of bone in persons with OI and are especially helpful in the treatment of children. Low impact exercises such as swimming keep muscles strong and help maintain strong bones. Bracing can also be helpful for some people.
Reconstructive surgery may be needed to correct any deformities. Such treatment is important because deformities (such as bowed legs or a spinal problem) can significantly affect a person's ability to move or walk.
Richard Bowen, MD
Mauricio Silva, MD
Miranda Tu, MD, Pediatrician