Metaphyseal dysplasia
Metaphyseal Dysplasia
Metaphyseal dysplasia (pronounced: meh-tuh-FIZ-ee-ul dis-PLAY-zee-uh) is a rare genetic disorder that affects the metaphyses of the bones. The metaphyses are the wide portions at the ends of long bones, such as the femur and tibia, where growth occurs in children.
Etymology
The term "metaphyseal" is derived from the Greek words "meta," meaning "after," and "physis," meaning "nature." "Dysplasia" comes from the Greek "dys," meaning "bad" or "difficult," and "plassein," meaning "to form." Thus, metaphyseal dysplasia can be translated as "difficult formation after nature," referring to the abnormal development of the metaphyses.
Symptoms
Symptoms of metaphyseal dysplasia may include short stature, bone pain, skeletal deformities, and fractures. The severity and range of symptoms can vary widely among individuals.
Causes
Metaphyseal dysplasia is caused by mutations in various genes. These mutations are usually inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations.
Diagnosis
Diagnosis of metaphyseal dysplasia is typically based on a clinical evaluation, detailed patient history, and a variety of specialized tests, including X-rays and genetic testing.
Treatment
Treatment of metaphyseal dysplasia is symptomatic and supportive. It may include physical therapy, pain management, and in some cases, orthopedic procedures.
Related Terms
External links
- Medical encyclopedia article on Metaphyseal dysplasia
- Wikipedia's article - Metaphyseal dysplasia
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