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.

Look at other dictionaries:

  • Waardenburg syndrome — Waardenburg syndrome. См. синдром Ваарденбурга. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Waardenburg syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 14021 DiseasesDB mult= DiseasesDB2|33475 ICD10 = ICD10|E|70|3|e|70 (ILDS E70.32) ICD9 = ICD9|270.2 ICDO = OMIM = OMIM mult = MedlinePlus = 001428 eMedicineSubj = ped eMedicineTopic = 2422… …   Wikipedia

  • Waardenburg syndrome — Waar·den·burg syndrome (vahrґden boorg) [Petrus Johannes Waardenburg, Dutch ophthalmologist, 1886–1979] see under syndrome …   Medical dictionary

  • Waardenburg syndrome — any of several hereditary conditions characterized principally by a combination of auditory and pigmentary abnormalities, including hypopigmented or heterochromatic irides and sometimes hypopigmented fundi; pigmentation defects of the skin and… …   Medical dictionary

  • Klein-Waardenburg syndrome — Klein Waar·den·burg syndrome (klīnґ vahrґdən bərg) [David Klein, Swiss ophthalmologist, 1908–1993; Petrus Johannes Waardenburg, Dutch ophthalmologist, 1886–1979] Waardenburg syndrome type 3; see under syndrome …   Medical dictionary

  • Shah-Waardenburg syndrome — Shah Waar·den·burg syndrome (shahґ vahrґden boorg) [Krishnakumar N. Shah, Indian physician, late 20th century; Petrus Johannes Waardenburg, Dutch ophthalmologist, 1886–1979] Waardenburg syndrome type 4; see under syndrome …   Medical dictionary

  • Klein-Waardenburg syndrome — Waardenburg s. type 3 …   Medical dictionary

  • Shah-Waardenburg syndrome — Waardenburg s. type 4 …   Medical dictionary

  • Klein-Waardenburg syndrome — See Waardenburg&’s syndrome …   Dictionary of molecular biology

  • Syndrome de waardenburg type 1 — Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

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