Barber–Say syndrome

Barber–Say syndrome (BSS) is a rare genetic disorder characterized by a range of physical abnormalities. The syndrome is named after the two doctors, Dr. Richard G. Barber and Dr. Thomas G. Say, who first described it in 1986.

Symptoms and Signs

The symptoms of Barber–Say syndrome can vary greatly from person to person. However, some common features include:

• Hypertrichosis: Excessive hair growth over the body.
• Atrophic skin: Skin that is thin and transparent.
• Ectropion: A condition where the lower eyelids turn outward.
• Macrostomia: An abnormally large mouth.
• Hypertelorism: An abnormally increased distance between two organs or bodily parts, usually referring to the eyes.
• Redundant skin: Excess skin that can lead to the formation of skin folds.

Causes

Barber–Say syndrome is caused by mutations in the TWIST2 gene. This gene provides instructions for making a protein that plays a crucial role in the development of the skin, hair, and eyes. Mutations in the TWIST2 gene disrupt the normal development of these structures, leading to the signs and symptoms of Barber–Say syndrome.

Diagnosis

Diagnosis of Barber–Say syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm a diagnosis by identifying a mutation in the TWIST2 gene.

Treatment

There is currently no cure for Barber–Say syndrome. Treatment is symptomatic and supportive, and may include surgery to correct ectropion and macrostomia, as well as measures to manage skin and hair abnormalities.

See also

• List of genetic disorders
• TWIST2

References

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