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DeCS
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Descriptor English:
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Klippel-Trenaunay-Weber Syndrome
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Descriptor Spanish:
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Síndrome de Klippel-Trenaunay-Weber
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Descriptor Portuguese:
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Síndrome de Klippel-Trenaunay-Weber
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Synonyms English:
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Klippel-Trenaunay Disease
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Tree Number:
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C14.907.077.410
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Definition English:
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A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator. |
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History Note English:
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94; was KLIPPEL-TRENAUNAY DISEASE 1975-93 (see under ANGIOMATOSIS 1975-90)
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Allowable Qualifiers English:
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Record Number:
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31869
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Unique Identifier:
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D007715
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Occurrence in VHL:
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Similar:
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DeCS SciELO LILACS LIS
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