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Diseases

Genetic and Rare Diseases Information Center (GARD)

Barber Say syndrome


Other Names for this Disease
  • Barber-Say syndrome
  • Hypertrichosis - atrophic skin - ectropion - macrostomia
  • Hypertrichosis atrophic skin ectropion macrostomia
  • Hypertrichosis, atrophic skin, ectropion, and macrostomia
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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.[1][2][3] A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene.[4] Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach.[2]
Last updated: 8/10/2015

References

  1. Barber-Say syndrome. Orphanet. January 2014; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1476. Accessed 8/10/2015.
  2. Roche N, Houtmeyers P, Janssens S, Blondeel P. Barber-Say syndrome in a father and daughter. Am J Med Genet. 2010 Oct; 152A(10):2563-8. http://www.ncbi.nlm.nih.gov/pubmed/20799330. Accessed 8/10/2015.
  3. Dinulos MB, Pagon RA. Autosomal dominant inheritance of Barber-Say syndrome. Am J Med Genet.. 1999 Sep 3; 86(1):54-6. http://www.ncbi.nlm.nih.gov/pubmed/10440829. Accessed 8/10/2015.
  4. Marchegiani S et al.. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet. 2015 July 2; 97(1):99-110. http://www.ncbi.nlm.nih.gov/pubmed/26119818. Accessed 8/10/2015.
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In Depth Information

  • 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
  • Barber-Say syndrome
  • Hypertrichosis - atrophic skin - ectropion - macrostomia
  • 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.