Stickler syndrome

Stickler Syndrome

Stickler syndrome (/ˈstɪklər sɪnˈdroʊm/), also known as hereditary progressive arthro-ophthalmopathy, is a genetic disorder that can cause serious vision, hearing, and joint problems. The syndrome is named after Gunnar B. Stickler, an American pediatrician and geneticist who first described the condition in 1965.

Etymology

The term "Stickler syndrome" is derived from the name of Dr. Gunnar B. Stickler, who first identified the condition. The term "syndrome" comes from the Greek "σύνδρομον" (sýndromon), meaning "concurrence of symptoms," or "running together."

Symptoms

People with Stickler syndrome may experience a range of symptoms, including:

Causes

Stickler syndrome is caused by mutations in several genes, including the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes. These genes are involved in the production of collagen, a protein that provides structure and strength to the body's tissues.

Diagnosis

Diagnosis of Stickler syndrome is based on a clinical evaluation, detailed patient history, and a variety of specialized tests. These may include genetic testing, imaging studies, and eye and hearing examinations.

Treatment

There is currently no cure for Stickler syndrome. Treatment is symptomatic and supportive, and may include physical therapy, surgery, hearing aids, and regular eye examinations.

Prognosis

The prognosis for individuals with Stickler syndrome varies. Some people may have mild symptoms and lead normal lives, while others may experience severe complications such as blindness or deafness.

External links

Medical encyclopedia article on Stickler syndrome
Wikipedia's article - Stickler syndrome

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Stickler syndrome