Acrodysostosis

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Acrodysostosis (pronounced as ak-ro-dy-sos-to-sis) is a rare genetic disorder that primarily affects the development of the skeletal system.

Etymology

The term "Acrodysostosis" is derived from the Greek words "akron" meaning extremity, "dys" meaning bad or difficult, and "ostosis" meaning condition of the bone.

Definition

Acrodysostosis is characterized by brachydactyly, which refers to unusually short and malformed bones in the hands and feet, and facial dysostosis, which involves distinctive facial features such as a small nose with a flat nasal bridge, a round face, and prominent eyes.

Symptoms

The symptoms of Acrodysostosis can vary greatly among affected individuals. Some common symptoms include intellectual disability, resistance to multiple hormones, and slow growth.

Causes

Acrodysostosis is caused by mutations in the PRKAR1A or PDE4D genes. These genes provide instructions for making proteins that are involved in signaling pathways that help control the growth and development of many types of cells, including bone cells.

Diagnosis

Diagnosis of Acrodysostosis is based on a clinical examination, detailed patient history, and a variety of specialized tests. These tests may include X-ray imaging, genetic testing, and hormone testing.

Treatment

Treatment of Acrodysostosis is symptomatic and supportive. It may include physical therapy, special education, hormone replacement therapy, and in some cases, surgery to correct bone abnormalities.

Related Terms

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