Definition of Barber Say Syndrome

Reviewed on 2/8/2021

Barber Say syndrome is a very rare syndrome characterized by excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion), and a large mouth (macrostomia). The exact inheritance pattern of this syndrome is not fully understood. Some cases have been linked to mutation in a gene known as TWIST2. Reports have described both severe and mild cases of the condition.

Also known as hypertrichosis, atrophic skin, ectropion, and macrostomia or hypertrichosis atrophic skin ectropion macrostomia.

United States. National Institutes of Health. Genetic and Rare Diseases Information Center. "Barber Say Syndrome." Feb. 1, 2021. <>.

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