Number of the records: 1  

Waardenburgov syndróm

  1. Record numberd014849
    Date06.06.2025
    TypeM - MESH
    Topical termWaardenburgov syndróm
    Other termEnglish (Pseudonym) Klein-Waardenburg Syndrome
    English (Pseudonym) Waardenburg's Syndrome
    Slovak (Pseudonym) Kleinov-Waardenburgov syndróm
    See also(Skutočné meno) piebaldizmus
    (Later heading) piebaldizmus
    UDCC16.131.077.938
    NoteRare, 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.
    subject heading

    subject heading

Number of the records: 1  

  This site uses cookies to make them easier to browse. Learn more about how we use cookies.

Accept allSettingsReject all