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Näytä käsitteiden/termien suhteet:
Waardenburgin oireyhtymä
Laajemmat termit: | |
Annotaatio: | a syndrome of multiple abnorm; check syndrome book for other Waardenburg skull deform syndromes; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
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historyNote*: | 91(66); was see under ABNORMALITIES, MULTIPLE 1975-90
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Huomautus: | Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
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publicMeSHNote*: | 91; was see under ABNORMALITIES, MULTIPLE 1975-90
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activeMeSHYear*: | 2000 2001 2002 2003 2004 2005 2006 2007 |
dateCreated*: | 1999-01-01 |
dateEstablished*: | 1991-01-01 |
dateRevised*: | 1999-11-03 |
recordAuthorizer*: | sjn |
recordMaintainer*: | kle |
recordOriginator*: | NLM |
Tyyppi: | |
Vierustermit: | |
URI: | |
Nimikkeet ja vastaavat käsitteet: | Waardenburgin syndrooma (fi, korvattu) Waardenburgs syndrom (sv) Waardenburg's Syndrome (en) Waardenburg-Klein Syndrome (en, korvattu) Klein-Waardenburg Syndrome (en, korvattu) Syndroma Waardenburg (la-FI, korvattu) |
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