Albinism–deafness syndrome

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Albinism–deafness syndrome (pronounced: al-bin-ism-deaf-ness sin-drome), also known as Woolf syndrome or ADFN is a rare genetic disorder characterized by the combination of albinism and sensorineural deafness.

Etymology

The term "Albinism–deafness syndrome" is derived from the two primary symptoms of the condition: albinism, a lack of pigmentation in the skin, hair, and eyes; and deafness, a loss of hearing. The syndrome is also named after the British physician, Sidney Woolf, who first described the condition in 1955.

Symptoms

The primary symptoms of Albinism–deafness syndrome are albinism and sensorineural deafness. Albinism is characterized by a lack of pigmentation in the skin, hair, and eyes, which can result in vision problems and an increased risk of skin cancer. Sensorineural deafness is a type of hearing loss that occurs when there is damage to the inner ear or to the nerve pathways from the inner ear to the brain.

Causes

Albinism–deafness syndrome is caused by mutations in the MYO7A gene. This gene provides instructions for making a protein that is involved in the function of specialized cells in the inner ear and in the production of melanin, the pigment that gives color to the skin, hair, and eyes.

Diagnosis

Diagnosis of Albinism–deafness syndrome is based on the presence of both albinism and sensorineural deafness. Genetic testing can confirm the diagnosis by identifying mutations in the MYO7A gene.

Treatment

There is currently no cure for Albinism–deafness syndrome. Treatment is focused on managing the symptoms and may include the use of hearing aids for sensorineural deafness and protective measures to prevent skin damage due to albinism.

See also

External links

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