Neurosurgery notes/Tumours/Tumour syndrome/Waardenburg syndrome

Waardenburg syndrome

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Tumour syndrome

General

  • Congenital sensorineural deafness.

Pathogenesis theories

  • Abnormal development of the neural crest as causing the syndrome, and it is explained by the deficient neural crest theory. According to this hypothesis, there is an association of Waardenburg syndrome with Hirschsprung syndrome.

Sign & symptoms

  • Distinctive facial features
  • Reduce pigmentation of hair, skin or eyes
      • A person's head with red hair AI-generated content may be incorrect.
      A white forelock (hair depigmentation)
       
      A close up of a person's eyes AI-generated content may be incorrect.
      Heterochromia irides
       
      A close-up of a baby AI-generated content may be incorrect.
      Cutaneous depigmentation
  • Congenital hearing loss

Four subtypes

  • WS type I:
    • Autosomal dominant disorder. PAX3 gene
    • dystopia canthorum
    • Clinically manifests as congenital deafness (sensorineural), dystopia canthorum (lateral displacement of medial corner of eyes), neural tube defects, cleft palate, and lip with patchy depigmentation of hair and skin. These symptoms are associated with pigmentary abnormalities of the eyes.
  • WS type II:
    • Autosomal dominant disorder. mutations in the MITF gene
    • Without dystopia canthorum
    • The inner canthi of both eyes are normal but have some other features similar to type-1.
  • WS type III:
    • Bilateral malformations of arms & hands
    • Is an extreme presentation of type I with the abnormality of upper limbs.
  • WS type IV:
    • Hirschsprung disease
    • Is due to mutations in the genes for one of its receptors, EDNRB or endothelin-3, usually autosomal recessive

Reference