OSTEOGENESIS IMPERFECTA

Osteogenesis imperfecta is a rare disorder present at birth causing the bones to be abnormally weak. With this genetic disorder, the body does not make enough collagen or it may be defective. Collagen is a major protein in the body that is the framework for bones and other tissues. If the collagen is not normal or if there is less of it than normal, bones will be weak and will break easily. Bones still heal at the normal rate, but may be deformed.

If one parent has the gene for osteogenesis imperfecta, each child has a 50 percent chance of getting it. Sometimes the parents do not have the gene. A gene may go through a mutation and form a new gene, which can cause the disease.

There are four types of osteogenesis imperfecta. Anyone with Type I or Type IV can be expected to have a normal life expectancy. Type I is the most common and the most mild. The gene for this type comes from the parents and causes bones to not have enough collagen.

Type II is the most severe type of this disorder. It usually occurs when a new gene is formed. In this type, the collagen is not formed correctly. Bones may break before a baby is born. Many are stillborn or die right after being born. There is nothing that can be done to stop this.

Type III of this disease also comes from a new gene that is formed. The collagen in this type is not formed correctly. These babies may also have broken bones when born, but do not die at birth. People with Type III are usually shorter than normal and may have deformities of the spine.

Type IV comes from a parent's gene that causes the collagen not to be formed correctly. People with this type may be shorter than normal. They may have teeth that break easily and mild bone deformities.

The symptoms of this disease vary greatly from person-to-person, even among people with the same type of the disease. The symptoms vary in characteristics and severity. The most common symptom is bones that break very easily, often from little or no apparent cause. Other symptoms may include:

whites of the eyes may be blue or have a purple or gray shade
shorter in height than normal
teeth may be dark colored or break easily
scoliosis, curving of the spine
weak muscles
bruise easily
problems with breathing
sweat a lot
constipation
loose joints
thin, smooth skin
high pitched voice and
hearing loss

There usually are many broken bones before puberty. After that, broken bones are less frequent. However, bones may start to break again when a woman reaches menopause or a man is between 50 and 60 years of age.

There is no cure for osteogenesis imperfecta. Treatment is to manage the symptoms, prevent problems and injuries, and keep as much bone mass and muscle strength as possible. Bone mass and muscle strength should be improved when possible.

As the child gets older, exercise should become part of the daily routine. Walking and, even better, swimming, are good ways to keep up muscle strength. People with this disease tend to get osteoporosis as they age. Avoiding tobacco, alcohol, and caffeine can help to make the bones stronger.

Because the public is so much more aware of child abuse now, it is important for parents to be aware of this when taking a child with a broken bone to a new healthcare provider or the hospital. Sometimes the child's primary provider will give the parents a letter to carry with them. The letter should explain what is wrong with the child. Sometimes a mild case of osteogenesis imperfecta may not show up until a child does have a broken bone.

The gene that causes osteogenesis imperfecta can be passed on to a child from a parent. People with a family history of osteogenesis imperfecta need to talk with a genetic counselor before starting a family. Parents of a child with this disease should also seek genetic counseling.

Disclaimer: This content is reviewed periodically and is subject to change as new health information becomes available. The information provided is intended to be informative and educational and is not a replacement for professional medical evaluation, advice, diagnosis or treatment by a healthcare professional.

HIL File BONE3443.rf2 VRS# 7630 Data Version 7.0