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Barber Say syndrome

Other Names for this Disease
  • Hypertrichosis atrophic skin ectropion macrostomia
  • Hypertrichosis, atrophic skin, ectropion, and macrostomia
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Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases.[1] Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive.[2][3] The underlying cause has not yet been determined.[1] Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach.[2]
Last updated: 3/22/2013


  1. Barber-Say syndrome. Orphanet. January2004; Accessed 3/22/2013.
  2. Roche N, Houtmeyers P, Janssens S, Blondeel P. Barber-Say syndrome in a father and daughter. Am J Med Genet A. 2010 Oct;152A(10):2563-8..
  3. Dinulos MB, Pagon RA. Autosomal dominant inheritance of Barber-Say syndrome. Am J Med Genet. 1999 Sep 3;86(1):54-6..
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Barber Say syndrome. Click on the link to view a sample search on this topic.