Parkes Weber syndrome
Other Names for this Disease
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capillary malformation on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb; and multiple arteriovenous fistulas (abnormal connections between arteries and veins) which can potentially lead to heart failure. Individuals may also have pain in the affected limb and a difference in size between the limbs. There has been evidence that some cases of PWS are caused by mutations in the RASA1 gene and are inherited in an autosomal dominant manner. Management typically depends on the presence and severity of symptoms and may include embolization or surgery in the affected limb.Parkes Weber syndrome (PWS) is a rare congenital condition causing an individual to have a large number of abnormal blood vessels. The main characteristics of PWS typically include a
Last updated: 6/9/2011
- Parkes Weber syndrome. Children's Hospital Boston. 2011; http://childrenshospital.org/az/Site2919/mainpageS2919P1.html. Accessed 6/8/2011.
- Parkes Weber syndrome. OMIM. July 22, 2014; http://www.ncbi.nlm.nih.gov/omim/608355#ClinicalFeatures-608355. Accessed 8/27/2015.
- Pinar Bayrak-Toydemir, David Stevenson. RASA1-Related Disorders. GeneReviews. December 19, 2013; http://www.ncbi.nlm.nih.gov/books/NBK52764/. Accessed 8/27/2015.
- Genetics Home Reference (GHR) contains information on Parkes Weber syndrome. This website is maintained by the National Library of Medicine.
- 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 Parkes Weber syndrome. Click on the link to view a sample search on this topic.