According to daily medical cases Facebook page. 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.
Causes
Multiple cases of parent-to-child transmission suggest that Barber-Say syndrome exhibits autosomal dominant inheritance.
Exome sequencing and expression studies have shown that BSS is caused by mutations in the TWIST2 gene that affect a highly conserved residue of TWIST2 (twist-related protein 2). TWIST2 is a basic helix-loop-helix transcription factor that binds to E-box DNA motifs (5'-CANNTG-3') as a heterodimer and inhibits transcriptional activation.
Sign 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
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