Klippel-Trenaunay-Weber syndrome


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. Synonym(s): angioosteohypertrophy syndrome, congenital dysplastic angiectasia, hemangiectatic hypertrophy

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 syndromeKlippel-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 syndromeKlippel-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 KlippelRendu-Osler-Weber syndrome - see under RenduSturge-Kalischer-Weber syndrome - Synonym(s): Sturge-Weber syndromeSturge-Weber disease - Synonym(s): Sturge-Weber syndromeSturge-Weber syndrome - see under SturgeWeber-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 panniculitisWeber-Cockayne syndrome - epidermolysis bullosa of the hands and feet.