Parkes Weber syndrome
Other Names for this Disease
- Cutaneous flush with underlying multiple micro arteriovenous fistulas, soft tissue and skeletal hypertrophy of the affected limb
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.
- Victor A. McKusick . Parkes Weber syndrome. OMIM. December 19, 2003; http://www.ncbi.nlm.nih.gov/omim/608355#ClinicalFeatures-608355. Accessed 6/8/2011.
- Pinar Bayrak-Toydemir, David Stevenson. RASA1-Related Disorders. GeneReviews. February 22, 2011; http://www.ncbi.nlm.nih.gov/books/NBK52764/. Accessed 6/9/2011.
- Genetics Home Reference (GHR) contains information on the P2RY12 gene and its related conditions. This website is maintained by the National Library of Medicine.
- 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.