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Osteogenesis Imperfecta

Osteogenesis Imperfecta

Osteogenesis imperfecta is also called OI or brittle bone disease. OI is present at birth. With this condition, bones can break very easily and, sometimes, without any obvious cause. Even though bones break easily, they can still heal at a normal rate. Because there is a defect in a gene, the bones are not as strong as normal. A person with mild OI may only have a few bone breaks in a lifetime. A person with a more severe type can have hundreds of them. The number of bone breaks often becomes fewer in adulthood. There are different types of OI. The most common types are: Type I: Mild OI and the most common form of this disease. The bones are weak and teeth problems are common. People with this type of OI often have a blue tint to the white part of their eyes. They most often have a normal lifespan. Type II: Most severe form of OI. Bones may break even before a baby is born. Death often happens by age 1. Type III: This is also a severe form of OI and a baby may be born with broken bones. There are often many breaks and very bad bone deformities because the bones are so weak. People with this type of OI often have a blue tint to the white part of the eyes. They may be shorter than normal and end up in a wheelchair. Problems with teeth and breathing are common and lifespan is often shorter. Type IV: Moderately severe disease with bones that break easily. People with this type of OI are often shorter and have mild bone deformities. The white part of the eyes is normal. They may have teeth problems. They may need crutches or braces to walk. The severity and outlook of OI depend on what type of OI a person has. There is no cure for this problem. The goal of treatment is to prevent more bone breaks and problems.

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Osteogenesis Imperfecta

About this topic

Osteogenesis imperfecta is also called OI or brittle bone disease. OI is present at birth. With this condition, bones can break very easily and, sometimes, without any obvious cause. Even though bones break easily, they can still heal at a normal rate. Because there is a defect in a gene, the bones are not as strong as normal. A person with mild OI may only have a few bone breaks in a lifetime. A person with a more severe type can have hundreds of them. The number of bone breaks often becomes fewer in adulthood. There are different types of OI. The most common types are: Type I: Mild OI and the most common form of this disease. The bones are weak and teeth problems are common. People with this type of OI often have a blue tint to the white part of their eyes. They most often have a normal lifespan. Type II: Most severe form of OI. Bones may break even before a baby is born. Death often happens by age 1. Type III: This is also a severe form of OI and a baby may be born with broken bones. There are often many breaks and very bad bone deformities because the bones are so weak. People with this type of OI often have a blue tint to the white part of the eyes. They may be shorter than normal and end up in a wheelchair. Problems with teeth and breathing are common and lifespan is often shorter. Type IV: Moderately severe disease with bones that break easily. People with this type of OI are often shorter and have mild bone deformities. The white part of the eyes is normal. They may have teeth problems. They may need crutches or braces to walk. The severity and outlook of OI depend on what type of OI a person has. There is no cure for this problem. The goal of treatment is to prevent more bone breaks and problems.

What drugs may be needed?

Increase bone strength and density

What problems could happen?

Disability,Long-lasting deformity,Breathing problems,Hearing loss,Spinal cord or brain stem problems

Body systems

Medical Genetics,Neuromuscular and Skeletal,Pediatric,Therapy (Occupational, Physical, Speech, etc)

What are other common names?

Brittle Bone Disease,Ekman-Lobstein Disease,Genetic Disorders,Lobstein Disease (Type I),OI,Vrolik Disease (Type II)

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