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Genetic and Rare Diseases Information Center (GARD)

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Barber Say syndrome


Other Names for this Disease

  • Hypertrichosis atrophic skin ectropion macrostomia
  • Hypertrichosis, atrophic skin, ectropion, and macrostomia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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

References

  1. Barber-Say syndrome. Orphanet. January2004; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1476. 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 a 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.
Other Names for this Disease
  • Hypertrichosis atrophic skin ectropion macrostomia
  • Hypertrichosis, atrophic skin, ectropion, and macrostomia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.