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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
- PKWS
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Overview
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.[1] There has been evidence that some cases of PWS are caused by mutations in the RASA1 gene[2] and are inherited in an autosomal dominant manner.[3] Management typically depends on the presence and severity of symptoms and may include embolization or surgery in the affected limb.[3]
References
- 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.
Your Questions Answered
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On this page
General Information
- 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.