Metaphyseal dysplasia

Metaphyseal dysplasia is a rare genetic disorder that affects the metaphyses of the bones. The metaphyses are the wide portions at the ends of the long bones, such as the femur and humerus, where growth occurs in children. In individuals with metaphyseal dysplasia, these areas are malformed, leading to a variety of skeletal abnormalities.

Symptoms

The symptoms of metaphyseal dysplasia can vary greatly from person to person. Some individuals may have mild symptoms, while others may have severe skeletal abnormalities. Common symptoms include:

• Short stature
• Bowing of the legs
• Abnormal curvature of the spine (scoliosis)
• Joint pain and stiffness
• Limited range of motion in the joints

Causes

Metaphyseal dysplasia is caused by mutations in certain genes that are involved in the development and growth of bone. These mutations are usually inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the disorder on to each of their children.

Diagnosis

The diagnosis of metaphyseal dysplasia is usually made based on the clinical symptoms and physical examination findings. Imaging studies, such as X-rays, can also be helpful in confirming the diagnosis. In some cases, genetic testing may be used to identify the specific gene mutation causing the disorder.

Treatment

There is currently no cure for metaphyseal dysplasia. Treatment is aimed at managing the symptoms and improving the quality of life for individuals with the disorder. This may include physical therapy, pain management, and in some cases, orthopedic surgery to correct skeletal abnormalities.

See also

• Genetic disorders
• Bone diseases
• Growth disorders

References

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