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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
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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 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. Children's Hospital Boston. http://childrenshospital.org/az/Site2919/mainpageS2919P1.html. Accessed June 8, 2011.
- Victor A. McKusick . Parkes Weber syndrome. OMIM. http://www.ncbi.nlm.nih.gov/omim/608355#ClinicalFeatures-608355. Accessed June 8, 2011.
- Pinar Bayrak-Toydemir, David Stevenson. RASA1-Related Disorders. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK52764/. Accessed June 9, 2011.
On this page
- Genetics Home Reference (GHR) contains information on Parkes Weber syndrome. Click on the link to go to GHR and review the information.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Parkes Weber syndrome. Click on the link to go to OMIM and review these resources.