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Waardenburgov syndróm

  1. Subject h.Waardenburgov syndróm
    Subject h.Waardenburg Syndrome
    Entry termsKleinov-Waardenburgov syndróm
    English X referencesKlein-Waardenburg Syndrome
    Waardenburg's Syndrome
    Scope note in EnglishRare, 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.
    See also reference (FX) in Slovak piebaldizmus
    See also reference (FX) in English Piebaldism
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