Wagner–Stickler syndrome

Wagner–Stickler syndrome is a genetic disorder that affects connective tissues throughout the body. It is characterized by a range of symptoms, including ocular abnormalities, hearing loss, and joint problems. The syndrome is named after the Swiss ophthalmologist Hans Wagner and the American geneticist Peter J. Stickler, who first described the condition in the mid-20th century.

Symptoms and Signs

The symptoms of Wagner–Stickler syndrome can vary widely between individuals. The most common symptoms include myopia (nearsightedness), cataract (clouding of the lens of the eye), and retinal detachment. Some individuals may also experience hearing loss, which can be either sensorineural (caused by damage to the inner ear) or conductive hearing loss (caused by problems with the ear canal, eardrum, or middle ear). Joint problems, such as arthritis and spondyloepiphyseal dysplasia (a disorder of bone growth), are also common.

Causes

Wagner–Stickler syndrome is caused by mutations in the COL2A1, COL11A1, or COL11A2 genes. These genes provide instructions for making proteins that are used to form type II collagen, a substance found in the cartilage and the clear gel that fills the eyeball (vitreous). Mutations in these genes disrupt the production or assembly of type II collagen, leading to the varied symptoms of Wagner–Stickler syndrome.

Diagnosis

Diagnosis of Wagner–Stickler syndrome is based on the presence of characteristic symptoms and may be confirmed by genetic testing. Imaging tests, such as MRI or CT scan, may be used to assess the extent of joint abnormalities. Audiometry (hearing tests) may be used to evaluate hearing loss.

Treatment

There is currently no cure for Wagner–Stickler syndrome. Treatment is aimed at managing symptoms and may include physiotherapy for joint problems, hearing aids for hearing loss, and surgery for severe ocular abnormalities. Regular monitoring is recommended to detect and treat complications as early as possible.

See Also

• Genetic disorder
• Connective tissue
• Collagen

NIH genetic and rare disease info

• NIH info on Wagner–Stickler syndrome

Wagner–Stickler syndrome is a rare disease.

Wagner–Stickler syndrome Resources
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