What is osteopetrosis?
Osteopetrosis is a group of rare disorders that cause bones to grow abnormally and become too dense. When this happens, bones can break easily. In addition, bones may be misshapen and large, causing other problems in the body, such as problems with:
- Seeing and hearing.
- Fighting infection.
- Controlling bleeding.
All of the forms of osteopetrosis are genetic diseases that a child inherits from their parents. The disorder may be mild to severe, and symptoms may show up early after birth or later in adulthood.
Who gets osteopetrosis?
People with a family history of the disease are at greater risk of getting it through an abnormal gene that is passed on from one or both parents.
What are the types of osteopetrosis?
There are several types of osteopetrosis. The types are based on:
- How the disease is inherited.
- At what age symptoms develop.
- How bad the disease is.
Some types show up after birth and other types develop in adulthood.
What are the symptoms of osteopetrosis?
Symptoms can vary depending on the type of osteopetrosis. They include:
- Broken bones from weak, dense bones.
- Nasal congestion from narrowing sinus cavities.
- Vision and hearing changes from enlarged bones pressing on nerves.
- Dental problems due to bone changes.
- Low blood cell levels.
- Infections in the bone.
- Chronic bone pain.
What causes osteopetrosis?
Osteopetrosis is a group of genetic diseases that, in most cases, a child inherits from one or both parents. People with osteopetrosis have a gene that causes the body to make too few or abnormal cells that break down old bone. This leads to dense and weak bones.