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.


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


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


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.
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Northwesterly wind from 18-23 kts, reaching 30 kts during the day, decreasing to 12-17Kts during the night.