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Waardenburg Syndrome

Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. 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.
推出的年份: 2013(1966)
副标题
树号: C16.131.077.938
MeSH 单一 ID: D014849
进入的组:
  • Syndrome, Waardenburg
  • Waardenburg's Syndrome
  • Syndrome, Waardenburg's
  • Waardenburgs Syndrome
  • Waardenburg Syndrome Type 1
  • Waardenburg Syndrome, Type 1
  • Waardenburg Syndrome with Dystopia Canthorum
  • Waardenburg's Syndrome Type 1
  • Klein Syndrome
  • Syndrome, Klein
  • Klein-Waardenburg Syndrome
  • Klein Waardenburg Syndrome
  • Syndrome, Klein-Waardenburg
  • Waardenburg Syndrome Type 3
  • White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations
  • Waardenburg Syndrome, Type 3
  • Waardenburg Syndrome, Type III
  • Waardenburg-Klein Syndrome
  • Syndrome, Waardenburg-Klein
  • Waardenburg Klein Syndrome
  • Klein's Syndrome
  • Kleins Syndrome
  • Syndrome, Klein's
  • Waardenburg Syndrome with Upper Limb Anomalies

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