Osteogenesis imperfecta (OI) is an inherited disease that causes very weak bones.
There are 8 main types of OI.
Type 1 OI may not be diagnosed until late childhood or the teenage years. Other types may be diagnosed when a baby is born. In the severest cases the baby’s bones may break before birth and the baby may be born dead. In other severe or moderately severe cases, your child may become wheelchair bound or need braces or crutches to walk.
OI can cause 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. 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.
Usually the gene for the disease is inherited from the parents.
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 result 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). The OI Foundation can provide referrals to OI experts. Your child may also need to see other specialists, such as a physical therapist or an ear, nose, and throat specialist.
Goals of treatment are to manage the symptoms, prevent problems and injuries, and keep the bones and muscles as strong as possible. Treatment includes:
Sometimes surgery may be done, often including implanting rods to support the long bones in the arms or legs.
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 medical history, it is a good idea to talk with a genetic counselor before you start a family.
For more information, contact the OI Foundation at 800-981-2663 or visit the Web site at http://www.oif.org.