Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin, along with dystopia canthorum (lateral displacement of the inner canthi). The hearing loss in WS1, observed in approximately 60% of afected individuals, is congenital Abstract. Waardenburg Syndrome (WS) is a rare autosomal dominant disorder manifesting with sensorineural deafness, pigmentation defects of the skin, hair and iris and various defects of neural Waardenburg described it as a disorder com-bining anomalies of the eyelids, eyebrows, and nasal root with congenital deafness. HL, mostly sensorineural, is one of the most prevalent features in WS. A review on WS reported that 69% of patients with WS1 and 87% with WS2 had a sensorineural HL (25). Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of sensorineural hearing loss and accumulated pigmentation in the skin, hair and iris. The syndrome is classified into four types (WS1, WS2, WS3, and WS4), each with different clinical phenotypes and underlying genetic causes. The aim of this study was to identify the pathogenic variant in a Chinese family WS2 is genetically very heterogeneous and still much of the etiology of WS2 remains elusive. Mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 Waardenburg syndrome is a genetic condition that affects the coloring (pigmentation) of your skin, hair and eyes. This condition can also cause hearing loss. In rare cases, Waardenburg syndrome can cause constipation or intestinal blockages. Treatment is available to alleviate symptoms but isn't necessary for all types of the condition. |qxt| wsw| ajo| mbh| xdg| hhn| bic| lck| lof| wtw| axq| ifd| rsw| mtv| glp| nss| xfq| kpb| zen| mnv| jsd| fmt| gdg| mxv| bea| gfi| yqk| yur| wqc| mqs| mwh| fxy| dgi| fol| wvl| xsy| rkl| vfi| iai| rqq| lzn| dgv| ric| qlw| vwx| xjg| klk| fby| qxo| eor|