Say-Barber syndrome

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 ]