Barber–Say syndrome

Barber Say syndrome
Other namesHypertrichosis-atrophic skin-ectropion-macrostomia syndrome
Barber-Say syndrome has an autosomal dominant pattern of inheritance
Usual onsetNeonatal

Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth (hypertrichosis), fragile (atrophic) skin, eyelid deformities (ectropion), and an overly broad mouth (macrostomia).

Barber-Say syndrome is phenotypically similar to Ablepharon macrostomia syndrome, which is also associated with dominant mutations in TWIST2.

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