Metachondromatosis

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Metachondromatosis

Metachondromatosis (pronounced: meh-tuh-kon-droh-muh-toh-sis) is a rare genetic disorder characterized by the presence of both osteochondromas and enchondromas, benign cartilage-forming tumors.

Etymology

The term "Metachondromatosis" is derived from the Greek words "meta" meaning "after" or "beyond", "chondro" referring to "cartilage", and "matosis" indicating a "condition of". Thus, the term essentially refers to a condition beyond the normal state of cartilage.

Symptoms

The symptoms of Metachondromatosis can vary greatly among affected individuals. Common symptoms include pain, swelling, and deformity of the affected bones and joints. Some individuals may also experience limited range of motion in the affected joints.

Diagnosis

Diagnosis of Metachondromatosis is typically made based on a thorough clinical evaluation, detailed patient history, and a variety of specialized tests including x-rays, magnetic resonance imaging (MRI), and computed tomography (CT) scans. Genetic testing may also be performed to confirm the diagnosis.

Treatment

Treatment for Metachondromatosis is typically symptomatic and supportive. This may include pain management, physical therapy, and in some cases, surgical intervention to remove the tumors and correct any deformities.

Related Terms

  • Osteochondroma - A benign bone tumor that originates from the cartilage.
  • Enchondroma - A benign cartilage tumor that grows within the bone.
  • Genetic disorder - A disease caused by changes in the DNA sequence.

External links

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