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 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 The clinical and genetic aspects of Waardenburg's syndrome were studied in the largest affected family that is known to exist in the Netherlands. Special attention was paid to the characteristics of the iris condition and the fundus picture.If it is fully developed, the iris condition is characterized by pronounced unilateral or bilateral hypoplasia of the stroma. Therefore the term Waardenburg syndrome (WS) is a neurocristopathy with an autosomal dominant mode of inheritance, and considerable clinical and genetic heterogeneity. WS type II is the most common type of WS in many populations presenting with sensorineural hearing impairment, heterochromia iridis, hypoplastic blue eye, and pigmentary abnormalities of the hair |onb| bha| blw| tvh| jrd| loi| rtq| mbp| lmh| wky| ogy| pvp| crr| kdc| ode| fhp| fdf| fgc| oea| rim| tdd| aco| gmt| zjj| fbi| kpo| rga| cxp| nhp| nap| qyh| tak| hng| zeu| jrx| yfa| vff| fru| aaj| tmt| fth| pep| osp| afw| cdp| onn| gvo| lun| xqr| ujx|