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DeCS
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Descriptor English:
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Waardenburg's Syndrome
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Descriptor Spanish:
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Síndrome de Waardenburg
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Descriptor Portuguese:
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Síndrome de Waardenburg
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Synonyms English:
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Klein-Waardenburg Syndrome
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Tree Number:
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C16.131.077.938
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Definition English:
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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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Indexing Annotation English:
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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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History Note English:
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91(66); was see under ABNORMALITIES, MULTIPLE 1975-90
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Allowable Qualifiers English:
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Record Number:
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15250
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Unique Identifier:
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D014849
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Occurrence in VHL:
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Similar:
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DeCS SciELO LILACS LIS
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