De Barsy syndrome
Other Names for this Disease
- Corneal clouding, cutis laxa and mental retardation
- Progeroid syndrome of De Barsy
- Cutis laxa growth deficiency syndrome
- Progeroid syndrome, De Barsy type
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cloudy corneas; short stature; and intellectual disability. Affected individuals can have a wide variety of other signs and symptoms, including loose skin folds due to reduced elasticity (cutis laxa); poor muscle tone (hypotonia); movement disorders; and other features that involve the eyes, face, skin and nervous system. The genetic cause of the condition is not known in most cases, but it is inherited in an autosomal recessive manner. Treatment generally focuses on the signs and symptoms present in each individual and may include early eye surgery and physiotherapy to avoid contractures.De Barsy syndrome is a rare genetic disorder characterized mainly by a prematurely aged-looking face (progeria);
Last updated: 10/31/2011
- De Barsy Syndrome. NORD. March 31, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/979/viewAbstract. Accessed 10/31/2011.
- É. Morava, M. Guillard, D.J. Lefeber and R.A. Wevers. De Barsy syndrome. Orphanet. July 2010; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2673&Disease_Disease_Search_diseaseGroup=DE-BARSY-SYNDROME&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Progeroid-syndrome--De-Barsy-type--De-Barsy-syndrome-&title=Progeroid-syndrome--De-Barsy-type--De-Barsy-syndrome-&search=Disease_Search_Simple. Accessed 10/31/2011.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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 De Barsy syndrome. Click on the link to view a sample search on this topic.