Definition of Barber Say Syndrome

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.