Osteogenesis imperfecta (OI) is a rare inherited disease that causes weak bones. There are several types of OI. The severity of symptoms depends on the type of OI your child has. Some types of OI may start before a child is born and may cause the baby to die before birth. Other types may not be diagnosed until late childhood or the teenage years. A child with OI may need braces or crutches to walk. Or they may be unable to walk and need a wheelchair for the rest of their life.
OI can cause broken and deformed bones. Broken bones will heal, but in the process of healing, they may get deformed.
OI is caused by a problem with the genes that make collagen. Genes are inside each cell of your body. They contain the information that tells your body how to develop and work. Collagen is needed for strong bones and other tissues. If your child’s collagen is not normal or there is not enough of it, bones will be weak and break easily.
Abnormal genes that cause OI can be passed from parent to a child. Some children with OI are born to families with no history of the disease. Because there are different genes that cause OI, the disease can be very different from one person to another, ranging from very mild to severe.
The symptoms of this disease vary greatly, even among people with the same type of the disease. Symptoms may include:
Most fractures start happening in infancy or early childhood. Fractures happen less often as a child goes through puberty. Women with OI have more fractured bones after menopause. Men may start to break more bones after age 60.
Sometimes a mild case of OI may not be noticed until a bone breaks. Your healthcare provider will ask about your child’s medical and family history and examine your child. Tests may include:
Although these are the best tests for OI, sometimes the test results may be negative even though your child has OI.
Your child’s healthcare provider will refer you to a specialist for treatment, such as a pediatric orthopedist (a doctor who specializes in children's bones) and a pediatric endocrinologist (a doctor who specializes in disorders of hormones). Your child may also need to see other specialists, such as a physical therapist or an ear, nose, and throat specialist.
The goals of treatment are to manage the symptoms, prevent problems and injuries, and keep the bones and muscles as strong as possible. There is no cure yet for OI.
Sometimes surgery may be done. For example, rods may be put into long bones in arms or legs to support the bones.
Be aware of the public concern about abuse when you take a child with a broken bone to a new healthcare provider or the hospital. You may want to ask your child's healthcare provider to give you a letter to carry with you that explains your child's condition.
If you have OI, or there is OI in your family, it’s a good idea to talk with a genetic counselor before you decide to have children.
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