Mandibuloacral dysplasia

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Mandibuloacral dysplasia (pronunciation: man-dib-yoo-lo-ak-ral dis-pla-see-uh) is a rare genetic disorder characterized by skeletal abnormalities including limited growth, a small lower jaw (mandible), and distinctive features of the hands and feet.

Etymology

The term "Mandibuloacral dysplasia" is derived from Latin and Greek roots. "Mandibulo" refers to the mandible or lower jaw, "acral" refers to the extremities (hands and feet), and "dysplasia" is a term used in medicine to refer to abnormal growth or development.

Symptoms

The symptoms of Mandibuloacral dysplasia include dental abnormalities, skin abnormalities, and lipodystrophy, a condition that causes abnormal distribution of fat in the body.

Causes

Mandibuloacral dysplasia is caused by mutations in the LMNA gene or the ZMPSTE24 gene. These genes provide instructions for producing proteins that play crucial roles in the structure, function, and regulation of cells.

Diagnosis

Diagnosis of Mandibuloacral dysplasia is based on clinical examination, radiographic findings, and can be confirmed by genetic testing.

Treatment

Treatment for Mandibuloacral dysplasia is symptomatic and supportive. This may include orthodontic treatment for dental abnormalities, dermatologic treatments for skin abnormalities, and management of metabolic complications associated with lipodystrophy.

See also

References

External links

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