Klippel Trenaunay syndrome

Common Name(s)

Klippel Trenaunay syndrome, Klippel-Trenaunay Syndrome

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Klippel Trenaunay syndrome" for support, advocacy or research.

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Klippel-Trenaunay Support Group

The Group's mission is to provide support for K-T Syndrome patients and their families.

http://www.k-t.org

Last Updated: 9 Nov 2012

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Klippel Trenaunay syndrome" for support, advocacy or research.

Logo
Klippel-Trenaunay Support Group

The Group's mission is to provide support for K-T Syndrome patients and their families.

http://www.k-t.org

Last Updated: 9 Nov 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Klippel Trenaunay syndrome" returned 69 free, full-text research articles on human participants. First 3 results:

Venous thromboembolism and prothrombotic parameters in Klippel-Trenaunay syndrome.
 

Author(s): C E U Oduber, E J van Beers, P Bresser, C M A M van der Horst, J C M Meijers, V E A Gerdes

Journal: Neth J Med. 2013 Jun;71(5):246-52.

 

In Klippel-Trenaunay syndrome (KTS), a congenital combined vascular (capillary, venous and lymphatic) malformation with localised disturbed growth, venous thromboembolisms (VTEs) are frequently reported in small cohorts.

Last Updated: 26 Jun 2013

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Incomplete expression of Klippel-Trenaunay syndrome.
 

Author(s): Andrzej Brodkiewicz, Elwira Szychot, Jarosław Peregud-Pogorzelski, Krzysztof Luksza, Mieczysław Walczak, Martyna Tuziak, Maria Giżewska

Journal: Med Wieku Rozwoj. ;16(4):280-3.

 

Klippel-Trenaunay syndrome (KTS) is a rare, congenital vascular anomaly, defined as a triad including a port-wine stain, underlying bone and soft tissue hypertrophy and varicose veins and/or venous malformations.

Last Updated: 4 Feb 2013

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Functional characterization of Klippel-Trenaunay syndrome gene AGGF1 identifies a novel angiogenic signaling pathway for specification of vein differentiation and angiogenesis during embryogenesis.
 

Author(s): Di Chen, Lei Li, Xin Tu, Zhan Yin, Qing Wang

Journal: Hum. Mol. Genet.. 2013 Mar;22(5):963-76.

 

Specification of arteries and veins is a key process for establishing functional vasculature during embryogenesis and involves distinctly different signaling mechanisms. Vascular endothelial growth factor-A (VEGFA) is required for differentiation of arteries; however, the upstream ...

Last Updated: 4 Feb 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Klippel Trenaunay syndrome" returned 8 free, full-text review articles on human participants. First 3 results:

Conus medullaris-cauda arteriovenous malformation and Klippel-Trenaunay syndrome: what is the treatment goal?
 

Author(s): Donatella Sgubin, Ryuichi Kanai, Francesco Di Paola, Alessandro Perin, Pierluigi Longatti

Journal: Neurol. Med. Chir. (Tokyo). 2013 ;53(2):110-4.

 

A 29-year-old man with Klippel-Trenaunay syndrome (KTS) presented with a symptomatic conus medullaris-cauda arteriovenous malformation (AVM) manifesting as back and right limb pain, which abruptly worsened with the onset of right limb weakness and urinary retention. He was treated ...

Last Updated: 26 Feb 2013

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Klippel-Trenaunay syndrome and spinal arteriovenous malformations: an erroneous association.
 

Author(s): A I Alomari, D B Orbach, J B Mulliken, A Bisdorff, S J Fishman, A Norbash, R Alokaili, D J Lord, P E Burrows

Journal: AJNR Am J Neuroradiol. 2010 Oct;31(9):1608-12.

 

KTS is a rare limb overgrowth disorder with slow-flow vascular anomalies. This study examines the presumed association between KTS and spinal AVMs.

Last Updated: 11 Oct 2010

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Klippel-Trenaunay syndrome with gastrointestinal bleeding, splenic hemangiomas and left inferior vena cava.
 

Author(s): Zhen-Kai Wang, Fang-Yu Wang, Ren-Min Zhu, Jiong Liu

Journal: World J. Gastroenterol.. 2010 Mar;16(12):1548-52.

 

Klippel-Trenaunay syndrome is a congenital vascular anomaly characterized by a triad of varicose veins, cutaneous capillary malformation, and hypertrophy of bone and (or) soft tissue. Gastrointestinal vascular malformations in Klippel-Trenaunay syndrome may present with gastrointestinal ...

Last Updated: 24 Mar 2010

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

French National Cohort of Children With Port Wine Stain
 

Status: Recruiting

Condition Summary: Port Wine Stain; Klippel Trenaunay Syndrome; Parkes Weber Syndrome

 

Last Updated: 8 Nov 2013

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Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
 

Status: Recruiting

Condition Summary: Sturge-Weber Syndrome

 

Last Updated: 31 Jul 2013

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Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS)
 

Status: Not yet recruiting

Condition Summary: Sturge Weber Syndrome

 

Last Updated: 22 Nov 2013

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