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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Klippel Trenaunay syndrome
  • Klippel-Trenaunay-Weber syndrome
  • KTW syndrome
  • Weber-Klippel-Trenaunay
  • Angio-osteohypertrophy syndrome
  • KTS
Home > Rare Diseases and Related Terms > Klippel-Trenaunay syndrome



Klippel-Trenaunay syndrome
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Klippel Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues, and bones. This condition has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. A port-wine stain is a type of birthmark caused by swelling of the small blood vessels near the surface of the skin. The overgrowth of bones and soft tissues usually begins in infancy and is most often limited to one leg. However, overgrowth can also affect the arms or, rarely, the trunk. The abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. The vein malformations include varicose veins and malformations of deep veins in the limbs. The cause of Klippel-Trenaunay syndrome is unknown. This condition is almost always sporadic, which means that it occurs in people with no history of the disorder in their family.[1]


References
  1. Klippel-Tranaunay Syndrome. Genetics Home Reference. July 2010 Available at: http://www.ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome. Accessed January 10, 2012.
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For more information about Klippel-Trenaunay syndrome click on the boxes below:
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More Detailed Information (Found 8 resources)
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  • General

    • Genetics Home Reference (GHR) contains information on Klippel-Trenaunay syndrome. Click on the link to go to GHR and review the information.
    • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
    • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Klippel-Trenaunay syndrome. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Klippel-Trenaunay syndrome. Click on the link to view a sample search on this topic.
 Organizations Providing General Support | Social Networking Websites
Organizations (Found 7 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer



  • Organizations Providing General Support

  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
 
Services (Found 2 resources)
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    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 
Scientific Conferences (Found 2 resources)
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  • Past Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
 
Clinical Trials & Research (Found 5 resources)
Resources where you may find research studies and clinical trials. Disclaimer

    • ClinicalTrials.gov lists trials that are studying or have studied Klippel-Trenaunay syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
    • GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.
    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

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