Barber–Say syndrome

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Barber–Say syndrome
Synonyms	BSS
Pronounce
Specialty	Medical genetics
Symptoms	Hypertrichosis, macrostomia, ocular hypertelorism, cutaneous syndactyly
Complications	N/A
Onset
Duration
Types
Causes	Genetic mutation
Risks
Diagnosis	Clinical diagnosis, genetic testing
Differential diagnosis	Ablepharon macrostomia syndrome, Fraser syndrome
Prevention
Treatment	Symptomatic treatment
Medication
Prognosis
Frequency	Very rare
Deaths

Barber–Say syndrome is a rare genetic disorder characterized by distinctive facial features, skin abnormalities, and excessive hair growth. It is inherited in an autosomal dominant pattern, meaning only one copy of the altered gene is sufficient to cause the disorder. The condition is caused by mutations in the TWIST2 gene, which plays a role in the development of various tissues in the body. Diagnosis is typically based on clinical evaluation and can be confirmed with genetic testing. Treatment is symptomatic and supportive, focusing on managing the individual symptoms of the condition.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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