How do I know if I have Ollier disease?

Ollier disease, also known as enchondromatosis, is a rare non-hereditary skeletal disorder characterized by the development of multiple benign cartilage tumors called enchondromas. These tumors primarily affect the long bones of the body, such as the arms and legs, but can also occur in other bones like the ribs or skull.

If you suspect you may have Ollier disease, it is important to consult with a medical professional for a proper diagnosis. The following signs and symptoms may indicate the presence of this condition:

• Enchondromas: The hallmark feature of Ollier disease is the presence of multiple enchondromas. These tumors typically develop during childhood and may cause bone deformities, growth disturbances, or fractures.


• Asymmetry: Enchondromas often affect one side of the body more than the other, leading to noticeable differences in limb length or shape.


• Pain and swelling: Enchondromas can cause discomfort, pain, or swelling in the affected areas, especially if they grow larger or press on nearby structures.


• Fractures: Weakened bones due to the presence of enchondromas may be more prone to fractures, even with minimal trauma.


• Abnormal bone growth: In some cases, enchondromas can lead to abnormal bone growth, resulting in bone deformities or angular limb deformities.

Diagnosing Ollier disease typically involves a combination of medical history evaluation, physical examination, and imaging tests. X-rays, CT scans, or MRIs can help visualize the enchondromas and assess their extent and impact on the surrounding bones.

It is important to note that while the presence of multiple enchondromas is suggestive of Ollier disease, further genetic testing or a biopsy may be necessary to confirm the diagnosis and rule out other similar conditions.

Since Ollier disease is a rare disorder, it is crucial to consult with a healthcare professional who specializes in bone and joint conditions, such as an orthopedic surgeon or a geneticist. They can provide an accurate diagnosis, discuss potential treatment options, and offer appropriate management strategies based on your specific situation.