Barber–Say syndrome

Allopathie: +Category:Autosomal dominant disorders; +Category:Rare genetic syndromes using HotCat

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'''Barber-Say syndrome (BSS)''' is a very rare [[congenital disorder]] associated with excessive hair growth ([[hypertrichosis]]), fragile ([[Atrophy|atrophic]]) skin, eyelid deformities ([[ectropion]]), and an overly broad bouth ([[macrostomia]]).<ref> Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|website=rarediseases.info.nih.gov|access-date=2019-01-21}}</ref>

Barber-Say syndrome is phenotypically similar to [[Ablepharon macrostomia syndrome]].<ref name=":0">Liquid error: wrong number of arguments (1 for 2)</ref>

== 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

== Causes ==

=== Genetics ===
Multiple cases of parent-to-child transmission suggest that Barber-Say syndrome exhibits autosomal dominant inheritance.<ref></ref> 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.<ref></ref> Because TWIST2 mediates mesenchymal stem cell differentiation<ref>Liquid error: wrong number of arguments (1 for 2)</ref> and prevents premature or ectopic osteoblast differentiation,<ref>Liquid error: wrong number of arguments (1 for 2)</ref> mutations in TWIST2 that disrupt these functions by altering DNA-binding activity could explain many of the phenotypes of BSS.<ref name=":0" />

== Epidemiology ==
The prevalence of Barber Say syndrome is less than 1 in 1,000,000.<ref>Liquid error: wrong number of arguments (1 for 2)</ref> As of 2017, only 15 cases have been reported in the literature.<ref>Liquid error: wrong number of arguments (1 for 2)</ref>

== Other names ==

* Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome

== References ==


== External links ==




[[Category:Autosomal dominant disorders]]
[[Category:Rare genetic syndromes]]

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