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.
Signs and symptoms
Severe hypertrichosis, especially of the back
Skin abnormalities, including hyperlaxity and redundancy
Facial dysmorphism, including macrostomia
Eyelid deformities, including ectropion
Ocular telecanthus
Abnormal and low-set ears
Bulbous nasal tip with hypoplastic alae nasi
Low frontal hairline
Genetics
Multiple cases of parent-to-child transmission suggest that Barber-Say syndrome exhibits autosomal dominant inheritance. [Source: Wikipedia ]