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Genetic and Rare Diseases Information Center (GARD)

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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]
Last updated: 6/9/2011

References

  1. Parkes Weber syndrome. Children's Hospital Boston. 2011; http://childrenshospital.org/az/Site2919/mainpageS2919P1.html. Accessed 6/8/2011.
  2. Victor A. McKusick . Parkes Weber syndrome. OMIM. December 19, 2003; http://www.ncbi.nlm.nih.gov/omim/608355#ClinicalFeatures-608355. Accessed 6/8/2011.
  3. Pinar Bayrak-Toydemir, David Stevenson. RASA1-Related Disorders. GeneReviews. February 22, 2011; http://www.ncbi.nlm.nih.gov/books/NBK52764/. Accessed 6/9/2011.
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Basic Information

In Depth Information

  • The 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. 
  • 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.
Other Names for this Disease
  • Cutaneous flush with underlying multiple micro arteriovenous fistulas, soft tissue and skeletal hypertrophy of the affected limb
  • PKWS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.