Barber Say syndrome
Other Names for this Disease
- Hypertrichosis, atrophic skin, ectropion, and macrostomia
- Hypertrichosis atrophic skin ectropion 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. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene. 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: 8/10/2015
- 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.
- 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.
- 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.
- 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.
On this page
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.