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Klippel-Trenaunay Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Klippel-Trenaunay syndrome (KTS) is primarily a rare congenital capillary-venous vascular malformation associated with altered limb bulk and/or length. In 1900, Klippel and Trenaunay first reviewed systematically a condition consisting of capillary nevus, early onset of varicosities, and hypertrophy of tissues and bones of the affected limb. These three features constitute the primary diagnostic criteria of the syndrome today. The additional name Weber is sometimes added to describe those individuals who also have clinically significant arteriovenous malformations as a component of the syndrome, an association noted by Weber in 1918. More than 1,000 cases of Klippel-Trenaunay syndrome have now been reported in the literature (Berry et al. 1998).

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2016). Klippel-Trenaunay Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_143-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_143-2

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  • Online ISBN: 978-1-4614-6430-3

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