Klippel-Trenaunay-Weber syndrome


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Klip·pel-Tre·nau·nay-Web·er syn·drome

(klĭ-pel' trā-nō-nā web'ĕr), [MIM*149000]
a combination of angiomatosis (usually nevus flammeus and nevus avanus) and associated with enlargement and venous anomalies of an affected limb. Limb changes affect muscle and bone (atrophy or enlargement). Lymphedema bladder involvement may occur. Inheritance is probably autosomal dominant and sporadic.

Klippel-Trenaunay-Weber syndrome

A congenital disease (OMIM:149000) characterised by malformations of capillary (98% of patients), venous (72%) and lymphatic (11%) vessels, as well as bony and soft tissue hypertrophy, leading to large cutaneous haemangiomas with hypertrophy of the related bones and soft tissues.

Molecular pathology
Defects in AGGF1 on 5q13.3, which encodes a protein that promotes angiogenesis and endothelial cell proliferation, are a cause Klippel-Trenaunay syndrome. Other potential Klippel-Trenaunay-Weber syndrome gene loci have been identified at 8q22.3 and 14q13.

Klippel-Trenaunay-Weber syndrome

Angio-osteohypertrophy A usually sporadic, occasionally AD condition characterized by hypertrophy of extremities, port-wine stains, and venous malformations, syndactyly and polydactyly. See Syndactyly.

Klippel,

Maurice, French neurologist, 1858-1942.
Feil-Klippel syndrome - Synonym(s): Klippel-Feil syndrome
Klippel-Feil syndrome - a congenital defect manifested as a short neck, extensive fusion of the cervical vertebrae, and abnormalities of the brainstem and cerebellum. Synonym(s): cervical fusion syndrome; Feil-Klippel syndrome
Klippel-Trenaunay-Weber syndrome - an anomaly of the extremity in which there is a combination of angiomatosis and anomalous development of the underlying bone and muscle, sometimes associated with localized gigantism. Synonym(s): angioosteohypertrophy syndrome; congenital dysplastic angiectasia; hemangiectatic hypertrophy

Trenaunay,

Paul, French physician, 1875–.
Klippel-Trenaunay-Weber syndrome - see under Klippel

Weber,

Frederick Parkes, English physician, 1863-1962.
Klippel-Trenaunay-Weber syndrome - see under Klippel
Rendu-Osler-Weber syndrome - see under Rendu
Sturge-Kalischer-Weber syndrome - Synonym(s): Sturge-Weber syndrome
Sturge-Weber disease - Synonym(s): Sturge-Weber syndrome
Sturge-Weber syndrome - see under Sturge
Weber-Christian disease - a group of conditions with recurrent subcutaneous nodules, with or without fever or suppuration, followed by depression of the overlying skin. Synonym(s): Christian disease (2); nodular nonsuppurative panniculitis
Weber-Cockayne syndrome - epidermolysis bullosa of the hands and feet.
References in periodicals archive ?
The ISSVA classification is useful for identifying clinical landmarks, because some of the entities are associated with skin lesions, as is the case for hereditary hemorrhagic telangiectasia, Klippel-Trenaunay-Weber syndrome, Parkes-Weber syndrome, while other entities do not include lesions of the skin, for example angiodysplasia and arteriovenous malformations (Lowe et al 2012).
3) The difference between KTS and Klippel-Trenaunay-Weber Syndrome (KTWS) is that the latter includes significant arteriovenous malformations in the affected extremity.
When arteriovenous malformations coexist Klippel-Trenaunay-Weber syndrome (or Parkes-Weber) can be diagnosed [3].
Two cases had soft-tissue masses, of which one had Klippel-Trenaunay-Weber syndrome and the other a facial teratoma, both diagnosed antenatally.
Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation.
Klippel-Trenaunay-Weber syndrome (KTWS) is characterized by a triad of port-wine stain, varicose veins, and bone and soft tissue hypertrophy involving an extremity [1].
Hemangiomas are often related to some systemic hereditary diseases such as blue rubber bleb naevus syndrome, Maffucci's syndrome, Klippel-Trenaunay-Weber syndrome (Mako, 1996; Golitz, 1980).
The differential diagnosis for this disorder includes Beckwith-Wiedemann Syndrome, Klippel-Trenaunay-Weber Syndrome, Neurofibromatosis, lymohangiomatosis, hemangiomatosis, and Mafucci's Syndrome.
com)-- Keller Williams Realty of South Tampa is hosting a Family Fun Day on February 23, 2013 from 11am-2pm to raise funds for 6 year old Anna-Saphia, who is battling Klippel-Trenaunay-Weber Syndrome.
The vascular surgeon also raised the possibility of a whole-body Klippel-Trenaunay-Weber syndrome and advised excluding occlusion of the subclavian vein, iliac vein, and/or narrowing of the thoracic inlet/outlet.
Although there are some genetic studies underway, no specific genes that may cause Klippel-Trenaunay-Weber syndrome have been identified to date4.
Congenital macrodactyly including lymphangioma, hemangioma, Klippel-Trenaunay-Weber syndrome and Ollier's disease can be differentiated based on the non-fatty nature of the mass.