Barber-Say syndrome, abbreviated BSS, is a very rare congenital disorder associated with excessive hair growth, called hypertrichosis, fragile atrophic skin, deformities of the eyelids in the form of ectropion, and an overly broad mouth, called macrostomia. It is phenotypically similar to Ablepharon macrostomia syndrome, a related condition that is associated with dominant mutations in the gene TWIST2. The cited source lead gives no further detail on cause, frequency or management, so none is stated here.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. Barber-Say syndrome (Wikipedia)
Lead section
very rare congenital disorder
Lead section [body-system]
fragile (atrophic) skin
Lead: disease category
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).
View the Source2. Orphanet (INSERM): Orphanet: Barber-Say syndrome (ORPHA:1231)
Orphanet (INSERM)DisorderGeneAssociationQuote, DisorderGeneAssociation
"DisorderGeneAssociationType": "Disease-causing germline mutation(s) in"
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