waardenburg syndrome


Summary: 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.

Top Publications

  1. Ohno T, Maegawa T, Katoh H, Miyasaka Y, Suzuki M, Kobayashi M, et al. A new missense mutation in the paired domain of the mouse Pax3 gene. Exp Anim. 2017;66:245-250 pubmed publisher
    ..We named the mutant allele as Pax3Sp-Nag. The C3H/HeN-Pax3Sp-Nag strain may be useful for analyzing the function of Pax3 as a new model of the human disease, Waardenburg Syndrome.
  2. Jalilian N, Tabatabaiefar M, Alimadadi H, Noori Daloii M. SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis. Int J Pediatr Otorhinolaryngol. 2017;96:122-126 pubmed publisher
    b>Waardenburg syndrome (WS) is a neurocristopathy characterized by hearing impairment and pigmentary disturbances in hair, eyes, and skin...
  3. Viñuela A, Morín M, Villamar M, Morera C, Lavilla M, Cavallé L, et al. Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV. Am J Med Genet A. 2009;149A:2296-302 pubmed publisher
  4. Issa S, Bondurand N, Faubert E, Poisson S, Lecerf L, Nitschke P, et al. EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. Hum Mutat. 2017;38:581-593 pubmed publisher
    b>Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies...
  5. Wang X, Hao Z, Liu Y, Mei L, He C, Niu Z, et al. Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II. Biochem Biophys Res Commun. 2017;493:258-262 pubmed publisher
    b>Waardenburg syndrome (WS) is an autosomal dominant inherited non-syndromic type of hereditary hearing loss characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear...