Osteogenesis Imperfecta

Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means "imperfect bone formation". People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.

There are at least eight recognized forms of osteogenesis imperfecta, designated type I through type VIII. The types can be distinguished by their signs and symptoms, although their genetic causes and the way in which they are inherited can also differ.

Signs and Symptoms

The signs and symptoms of osteogenesis imperfecta can vary greatly from person to person, even among people with the same type of the disorder. In addition to fractures, people with osteogenesis imperfecta often have blue sclerae, which are whites of the eyes that appear blue or purple. Other common features include a short stature, hearing loss, respiratory problems, and problems with the teeth (dentinogenesis imperfecta).

Causes

Osteogenesis imperfecta is caused by mutations in several genes, including COL1A1, COL1A2, CRTAP, and P3H1. These genes are involved in the production of collagen, a protein that provides structure and strength to the bones, skin, and connective tissues.

Diagnosis

The diagnosis of osteogenesis imperfecta is based on the clinical features and may be confirmed by genetic testing. In some cases, the diagnosis can be made prenatally by ultrasound.

Treatment

There is currently no cure for osteogenesis imperfecta. Treatment is aimed at increasing overall bone strength to prevent fractures and maintain mobility. This may include physical therapy, walking aids, a healthy diet, and in some cases, surgery to place rods into the long bones of the legs.

See Also

• Genetic disorder
• Collagen
• Bone fracture

References

Osteogenesis Imperfecta Resources
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