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King's Syndrome

King's Syndrome (pronounced: /kɪŋz ˈsɪndroʊm/) is a rare, genetic disorder characterized by a variety of symptoms and physical features that vary greatly in range and severity.

Etymology

The term "King's Syndrome" is derived from the name of the physician who first described this disorder in the medical literature, Dr. Alan King.

Symptoms

The most common symptoms of King's Syndrome include muscle weakness, joint stiffness, and facial abnormalities. Other symptoms may include hearing loss, vision problems, and heart defects.

Causes

King's Syndrome is caused by mutations in the SHOX gene. This gene provides instructions for making a protein that is involved in the development of the skeleton and other tissues.

Diagnosis

Diagnosis of King's Syndrome is based on a clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include genetic testing, imaging studies, and laboratory tests.

Treatment

Treatment of King's Syndrome is directed toward the specific symptoms that are apparent in each individual. This may include physical therapy, surgery, and/or medication.

Prognosis

The prognosis for individuals with King's Syndrome varies greatly. Some individuals may lead relatively normal lives with few complications, while others may experience severe, life-threatening complications.

See Also

External links

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