Recessive multiple epiphyseal dysplasia

Recessive Multiple Epiphyseal Dysplasia (rMED) is a rare genetic disorder that affects the development of the bones. It is characterized by abnormalities in the growing ends of bones, known as epiphyses, which are essential for the normal growth and shaping of bones. This condition is part of a group of disorders known as skeletal dysplasias, which primarily affect the growth and development of the skeletal system.

Causes

Recessive Multiple Epiphyseal Dysplasia is caused by mutations in specific genes that are important for the development and maintenance of bone and cartilage. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the condition. The most commonly implicated genes in rMED include MATN3, COL9A2, and COL9A3.

Symptoms

The symptoms of rMED can vary significantly among affected individuals but generally include:

• Mild to moderate short stature
• Pain in the hips, knees, and ankles
• Early-onset osteoarthritis
• Abnormalities in the shape of the hands and feet
• Limited range of motion in the joints

The severity of symptoms can vary, and not all individuals will experience all the symptoms listed.

Diagnosis

Diagnosis of rMED is based on a combination of clinical evaluation, family history, and genetic testing. Imaging studies, such as X-rays, are crucial for visualizing the characteristic epiphyseal abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the genes associated with the condition.

Treatment

There is no cure for rMED, and treatment focuses on managing symptoms and improving quality of life. Treatment options may include:

• Physical therapy to improve joint function and reduce pain
• Pain management strategies, including medications
• Orthopedic interventions, such as surgery, to correct bone deformities or replace joints damaged by osteoarthritis

Prognosis

The prognosis for individuals with rMED varies. While the condition can cause significant pain and mobility issues, with appropriate management, many individuals can lead active, fulfilling lives. Early intervention and ongoing care are important to address symptoms and prevent complications.

See Also

• Skeletal dysplasia
• Osteoarthritis
• Genetic disorder
• Autosomal recessive inheritance