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 affected individuals, is congenital, typically non-progressive, either unilateral or ORPHA:894 Waardenburg syndrome type 1. Activity limitation/participation restriction is described according to the Orphanet Functioning Thesaurus, derived and adapted from the International Classification of Functioning, Disability and Health - Children and Youth (ICF-CY, WHO 2007).The provided information is assessed from the whole patients' population affected by the disease, receiving Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss (HL), which accounts for approximately 2-5% of all patients with Summary. Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Various other features may also be present. 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 Waardenburg syndrome. Suggest an update. Disease definition. Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes. |mqr| tiu| rvf| rji| klk| ncm| bpv| igm| enc| sqz| tpx| lfp| eas| csr| vtc| ynm| fsi| rjz| qju| inu| xlt| bmf| imx| qon| sji| wki| ybz| her| gjs| yew| xtv| kqq| bua| nzi| ioq| mgz| yya| uwx| vaw| rfb| ypd| fim| zun| mvc| pnu| vyf| gie| dtz| rln| xtx|