Waardenburg's syndrome

Waardenburg's syndrome
Autosomal dominant disorder with deafness and pigmentary disturbances probably as a result of defects in function of neural crest. Various forms of the syndrome are recognized. Waardenburg Syndrome 1 (WS1) and WS3 (also known as Klein-Waardenburg syndrome) are caused by mutation in Pax3 - an homologous defect to the mouse mutant Splotch that also has defective Pax -3. Waardenburg-Shah syndrome (WS4), in which Waardenburg&’s syndrome is associated with Hirschsprung&’s disease, is due to mutation in Sox10 and there is an homologous mutation in Dom mice (dominant megacolon), piebald-lethal and lethal spotting. WS2 is heterogeneous with mutation in the microphthalmia ( MITF ) gene.

Dictionary of molecular biology. 2004.

Look at other dictionaries:

  • Waardenburg's syndrome — Waar·den·burg s syndrome värd ən .bərgz n a highly variable genetic disorder inherited as an autosomal dominant trait and accompanied by all, any, or none of deafness, a white forelock, widely spaced eyes, and heterochromia of the irises… …   Medical dictionary

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

  • Waardenburg-Shah syndrome — Waar·den·burg Shah syndrome (vahrґden boorg shahґ) [P.J. Waardenburg; Krishnakumar N. Shah, Indian physician, late 20th century] Waardenburg syndrome type 4; see under syndrome …   Medical dictionary

  • Waardenburg's syndrome — an inherited form of deafness accompanied by a characteristic white forelock of hair and multiple colours within the irises of the eyes. It is inherited as an autosomal dominant disease, i.e. the children of an affected parent have a 50% chance… …   The new mediacal dictionary

  • Syndrome de waardenburg — Le syndrome de Waardenburg est une maladie génétique de transmission autosomique dominante associant une surdité avec des anomalies de la pigmentation de la peau, des cheveux et/ou de l iris. Le syndrome de Waardenburg est la cause la plus… …   Wikipédia en Français

  • 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-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

  • Syndrome ABCD — Morphologie faciale du syndrome de Waardenburg Le syndrome ABCD est défini par l association d un albinisme avec une mèche noire, de troubles de la migration des neurocytes de l intestin (maladie de Hirschsprung) et d une surdité neurosensorielle …   Wikipédia en Français

  • Syndrome de Waardenburg — Classification et ressources externes CIM 10 E70.3 (ILDS E70.32) CIM 9 270.2 DiseasesDB …   Wikipédia en Français

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