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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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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. Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. The underlying cause has not yet been determined. Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach.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 (
Last updated: 3/22/2013
- Barber-Say syndrome. Orphanet. January2004; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1476. Accessed 3/22/2013.
- 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..
- 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) database contains genetics resources that discuss Barber Say syndrome. Click on the link to go to OMIM and review these resources.
- 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.