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Disease Waardenburg Syndrome

Name Waardenburg Syndrome
Synonyms Klein's Syndrome | Kleins Syndrome | Klein Syndrome | Klein Waardenburg Syndrome | Klein-Waardenburg Syndrome | Syndrome, Klein | Syndrome, Klein's | Syndrome, Klein-Waardenburg | Syndrome, Waardenburg | Syndrome, Waardenburg-Klein | Syndrome, Waardenburg's | Waardenburg Klein Syndrome | Waardenburg-Klein Syndrome | Waardenburg's Syndrome | Waardenburgs Syndrome | Waardenburg's Syndrome Type 1 | Waardenburg Syndrome Type 1 | Waardenburg Syndrome, Type 1 | Waardenburg Syndrome Type 3 | Waardenburg Syndrome, Type 3 | Waardenburg Syndrome, Type III | Waardenburg Syndrome with Dystopia Canthorum | Waardenburg Syndrome with Upper Limb Anomalies | White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations | WS1 | WS3
Definition 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.
Categories Congenital abnormality
MeSH® ID D014849
OMIM® IDs 148820 | 193500
External Links

Top ↑ Ancestors

DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Waardenburg Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Waardenburg Syndrome Has associated chemicals Has associated genes
  ABCD syndrome Has associated chemicals Has associated genes
  Anophthalmos with limb anomalies
  Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Has associated chemicals Has associated genes
  Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome
  Waardenburg syndrome type 2 Has associated chemicals Has associated genes
  Waardenburg syndrome type 2A Has associated chemicals Has associated genes
  Waardenburg syndrome type 2B Has associated genes
  Waardenburg Syndrome, Type 2C Has associated genes
  Waardenburg Syndrome, Type 2D Has associated chemicals Has associated genes
View node Waardenburg syndrome, type 4 Has associated chemicals Has associated genes
  Waardenburg Syndrome, Type 4b Has associated chemicals Has associated genes
  Waardenburg Syndrome, Type 4c Has associated chemicals Has associated genes