waardenburg syndrome
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Waardenburg syndrome
<syndrome> Rare, autosomal dominant disease with variable penetrance and several known clinical types.
Clinical features include depigmentation of the skin and hair with a white forelock, congenital cochlear deafness, heterochromia iridis or hypochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root producing increased width of the root of the nose, dystopia canthorum, lateral dystopia of medial canthi and lacrimal puncta and synophrys.
The underlying cause may be defective development of the neural crest (neurocristopathy).
Waardenburg's syndrome may be closely related to piebaldism. Klein-waardenburg syndrome refers to a disorder that also includes upper limb abnormalities.
Inheritance: audosomal dominant.
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