Ollier Disease—Birth Defects

A birth defect is a problem that happens while a baby is developing in the mother’s body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect.

A birth defect may affect how the body looks, works or both. Some birth defects like cleft lip or neural tube defects are structural problems that can be easy to see. To find others, like heart defects, doctors use special tests. Birth defects can range from mild to severe. Causes can include

• Genetics
• Exposures to medicines or chemicals. For example, alcohol abuse can cause fetal alcohol syndrome.
• Infections during pregnancy
• Certain medicines. Before you get pregnant, talk to your health care provider about any medicines you take.
• Not getting enough of certain nutrients. For example, not getting enough folic acid before and during pregnancy is a key factor in causing neural tube defects.

For most birth defects, the cause is unknown.

Health care providers can diagnose certain birth defects during pregnancy, with prenatal tests. That’s why it important to get regular prenatal care. Other birth defects may not be found until after the baby is born. Sometimes the defect is obvious right away. Other times, the health care provider may not discover it until later in life.

Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies.

Centers for Disease Control and Prevention

• Intersex (Medical Encyclopedia)

Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.The signs and symptoms of Ollier disease may be detectable at birth, although they generally do not become apparent until around the age of 5. Enchondromas develop near the ends of bones, where normal growth occurs, and they frequently stop forming after affected individuals stop growing in early adulthood. As a result of the bone deformities associated with Ollier disease, people with this disorder generally have short stature and underdeveloped muscles.Although the enchondromas associated with Ollier disease start out as benign, they may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. People with Ollier disease also have an increased risk of other cancers, such as ovarian or liver cancer.People with Ollier disease usually have a normal lifespan, and intelligence is unaffected. The extent of their physical impairment depends on their individual skeletal deformities, but in most cases they have no major limitations in their activities.A related disorder called Maffucci syndrome also involves multiple enchondromas but is distinguished by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas).