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.

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References
United States. National Institutes of Health. Genetic and Rare Diseases Information Center. "Barber Say Syndrome." Feb. 1, 2021. <https://rarediseases.info.nih.gov/diseases/819/barber-say-syndrome>.

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