Waardenburg syndrome (WS)
An hereditary disorder characterized by hearing impairment, a white forelock (a frontal white blaze of hair), a difference of color between the iris of one eye and the other (heterochromia iridis), white eye lashes, wide-set inner corners of the eyes, and wide bridge of the nose. Premature graying of the hair may occur and depigmented areas of skin may be present. The severity of WS can vary greatly, and some affected persons escape deafness. The white forelock may be present at birth and later disappear. Waardenburg syndrome is inherited as an autosomal dominant trait in which the heterozygous state (with one copy of the gene) is sufficient to cause the syndrome. The homozygous form of WS with two copies of the gene is a very severe (and fortunately rare) disorder with very severe upper-limb defects that has been called the Klein-Waardenburg syndrome. The gene for classic Waardenburg syndrome, symbolized WS1, has been mapped to chromosome 2 (in band q35) and is at what is called the PAX3 gene locus.

Medical dictionary. 2011.

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  • Syndrome, Waardenburg — An hereditary disorder characterized by hearing impairment, a white forelock (a frontal white blaze of hair), a difference of color between the iris of one eye and the other (heterochromia iridis), white eye lashes, wide set inner corners of the… …   Medical dictionary

  • WS — Waardenburg syndrome; Wallenberg syndrome; ward secretary; Warkany syndrome; warning stimulus; Warthin Starry [stain]; water soluble; water swallow; watt second; Wellens syndrome; Werner syndrome; West syndrome; Wiener spectrum [x ray]; Wilder… …   Medical dictionary

  • WS — • Waardenburg syndrome; • Wallenberg syndrome; • ward secretary; • Warkany syndrome; • warning stimulus; • Warthin Starry [stain]; • water soluble; • water swallow; • watt second; • Wellens syndrome; • Werner syndrome; • West syndrome; • Wiener… …   Dictionary of medical acronyms & abbreviations

  • Waardenburg-Shah-Syndrom — Klassifikation nach ICD 10 Q87.8[1] Sonstige näher bezeichnete angeborene Fehlbildungssyndrome, anderenorts nicht klassifiziert …   Deutsch Wikipedia

  • Waardenburg-Syndrom — Klassifikation nach ICD 10 Q87.8[1] Sonstige näher bezeichnete angeborene Fehlbildungssyndrome, anderenorts nicht klassifiziert …   Deutsch Wikipedia

  • Klein-Waardenburg-Syndrom — Klassifikation nach ICD 10 Q87.8[1] Sonstige näher bezeichnete angeborene Fehlbildungssyndrome, anderenorts nicht klassifiziert …   Deutsch Wikipedia

  • Von-Waardenburg-Syndrom — Klassifikation nach ICD 10 Q87.8[1] Sonstige näher bezeichnete angeborene Fehlbildungssyndrome, anderenorts nicht klassifiziert …   Deutsch Wikipedia

  • Liste der Syndrome — Diese Seite listet in alphabetischer Reihenfolge und ohne Anspruch auf Vollständigkeit Syndrome und Komplexe aus unterschiedlichen medizinischen Fachgebieten auf. Bitte nur Verweise auf den tatsächlichen Titel des Beitrags und keine… …   Deutsch Wikipedia

  • PAX3 — Paired box 3 Identifiers Symbols PAX3; CDHS; HUP2; MGC120381; MGC120382; MGC120383; MGC120384; MGC134778; WS1; WS3 External IDs …   Wikipedia

  • Endothelin 3 — Endothelin 3, also known as EDN3, is a human gene.cite web | title = Entrez Gene: EDN3 endothelin 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=1908| accessdate = ] PBB Summary section title = summary… …   Wikipedia

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