Multiple epiphyseal dysplasia

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Multiple Epiphyseal Dysplasia (pronunciation: mul-ti-ple e-pi-phy-se-al dis-pla-sia) is a rare genetic disorder that primarily affects the epiphyses or the ends of the long bones in the arms and legs. The term is derived from the Greek words poly meaning many, epiphysis meaning the end part of a long bone, and dysplasia meaning abnormal growth or development.

Overview

Multiple Epiphyseal Dysplasia (MED) is characterized by abnormal growth, development, and eventual ossification of the epiphyses. This condition is typically diagnosed in childhood when growth abnormalities, pain, or limited joint mobility become apparent. The severity and specific symptoms can vary greatly from one person to another, even among members of the same family.

Causes

MED is caused by mutations in one of several genes, including COL9A1, COL9A2, COL9A3, COMP, and MATN3. These genes are involved in the production of proteins that are essential for the normal development of cartilage and for its conversion to bone. Mutations in these genes disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal abnormalities characteristic of MED.

Symptoms

The most common symptoms of MED include:

  • Short stature
  • Joint pain (especially in the hips and knees)
  • Limited range of motion in affected joints
  • Early-onset osteoarthritis

Diagnosis

Diagnosis of MED is based on a combination of physical examination findings, patient and family history, and radiographic studies. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for MED. Treatment is symptomatic and supportive, and may include pain management, physical therapy, and in some cases, orthopedic procedures to improve mobility and reduce discomfort.

See Also

External links

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