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Type III (Klein-Waardenburg syndrome) and type IV (Waardenburg-Shah syndrome) are less common. The multiple types of this syndrome result from defects in different genes. Most people with this disease have a parent with the disease, but the symptoms in the parent can be quite different from those in the child.
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.
Jul 1, 2017 · 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 ...
Feb 25, 2021 · 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 ...
May 25, 2023 · Waardenburg syndrome is usually caused by genetic mutations that are either inherited or occur spontaneously for unclear reasons. According to several studies, new mutations that cause Waardenburg syndrome 1 (WSI) seem to be associated with the father's advanced age. Several genes have identified mutations, like EDN3, EDNRB, MITF, PAX3, and SOX10.
The main characteristics of Waardenburg syndrome (WS) include: a wide bridge of the nose; pigmentary disturbances such as two different colored eyes, white forelock and eyelashes and premature graying of the hair; and some degree of cochlear deafness. The disease was named for Petrus Johannes Waardenburg, a Dutch ophthalmologist (1886-1979) who was the first to notice that people with two ...
Waardenburg syndrome type 2 (WS2) is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by Read and Newton, 1997 and Pingault et al., 2010).
