Waardenburg Syndrome

By Micah Jacks

What is it?

A possibly congenital genetic disorder

Causes

  • Inherited autosomal dominant pattern
  • Most often, the affected person has a parent with it
  • Only rare cases don't have a family history of it
  • some cases of types II and IV: have an autosomal recessive inheritance
  • Types II and IV: usually the parents of a person with W.S. with an autosomal recessive form both carry one copy of the altered gene, but no symptoms

Symptoms

  • Partial albinism
  • Deafness
  • Extreme pale blue eyes or heterochromia
  • Wide set nasal bridge and eyes
  • Cleft lip (rare)
  • White patch of hair above forehead (forelock)/ early graying of hair
  • Constipation

Treatment

Treatment is selected based on the symptoms (deafness, constipation).

Statistics

  • Affects 1 in 40,000 people
  • 2% to 5% of cases with congenital hearing loss have W.S.
  • Types I and II are common, III and IV are rare
Big image