======Waardenburg Syndrome ======
====Main Features====
  * [[sensorineural_hearing_loss|Congenital sensorineural hearing loss]]
  * White forelock
  * Hair hypopigmentation 
  * Iris pigmentary abnormality

====Eye Findings====
  * Iris pigmentary abnormality
    * Complete heterochromia
    * Segmental heterochromia
    * Complete hypoplastic blue iridies
  * Telecanthus
  * Choroidal hypopigmentation
====Other Findings====
  * Skin hypopigmentation 
  * Synophrys/medial eyebrow flare
  * Nasal anomalies
    * broad high nasal root
    * prominent columella 
    * hypoplastic nasal alae
  * Premature gray hair (age <30 years)
  * Hirschsprung disease
  * Cleft lip and palate 
  * Spina bifida

====Etiology====
  * Autosomal Dominant
  * Mutations in PAX3, MITF, SNAI2, SOX10, EDN3, EDNRB genees
====Resources====
  * {{::waardenburg_syndrome.pdf |Waardenburg syndrome: iris and choroidal hypopigmentation, findings on anterior and posterior segment imaging. Shields CL et al. JAMA Ophthalmol. 2013;131(9):1167-1173}}
  * [[https://medlineplus.gov/genetics/condition/waardenburg-syndrome/|Waardenburg Syndrome in Medline Plus]]

{{tag>syndrome}}