Waardenburg syndrome type 2: an orthodontic perspective

Rom J Morphol Embryol. 2015;56(2 Suppl):879-83.


Waardenburg syndrome is a rare form of neurocristopathy. It is a disorder in the development of neural crest cells, caused by an altered cellular migration during the embryonic phase. That alteration causes an association of different abnormalities such as pigmentary disturbances of the hair, iris, skin, stria vascularis of the cochlea, dystopia canthorum and sensorineural hearing loss. We report a case of a 14-year-old Romanian male, with a family history of Waardenburg syndrome (mother) and Usher syndrome (father - congenitally sensorineural hearing loss and retinal degeneration). The case particularities are: the correlation between malocclusion and Waardenburg syndrome due to hypoplastic alae nasi and also factors that produced hearing loss, which could be Waardenburg syndrome, Usher syndrome or the presence of the connexin 26 (W24X) gene mutation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cell Movement
  • Cochlear Implantation
  • Connexin 26
  • Connexins / genetics
  • Deafness / complications
  • Facies
  • Hair
  • Hearing Loss, Bilateral / complications
  • Humans
  • Male
  • Malocclusion / diagnosis*
  • Malocclusion / therapy*
  • Mutation
  • Neural Crest / pathology
  • Orthodontics / methods*
  • Phenotype
  • Pigmentation
  • Prognosis
  • Waardenburg Syndrome / diagnosis*
  • Waardenburg Syndrome / therapy*


  • Connexins
  • Connexin 26

Supplementary concepts

  • Nonsyndromic Deafness
  • Waardenburg syndrome type 2