Waardenburg Syndrome - Symptoms

Symptoms

Symptoms vary from one type of the syndrome to another and from one patient to another, but they include:

  • Very pale or brilliantly blue eyes, eyes of two different colors (complete heterochromia), or eyes with one iris having two different colours (sectoral heterochromia);
  • A forelock of white hair (poliosis), or premature graying of the hair;
  • Appearance of wide-set eyes due to a prominent, broad nasal root (dystopia canthorum)—particularly associated with type I) also known as telecanthus;
  • Moderate to profound hearing loss (higher frequency associated with type II);
  • A low hairline and eyebrows that touch in the middle.
  • Patches of white pigmentation on the skin have been observed in some people. Sometimes, abnormalities of the arms, associated with type III, have been observed.
  • Type IV may include neurologic manifestations.

Waardenburg syndrome has also been associated with a variety of other congenital disorders, such as intestinal and spinal defects, elevation of the scapula, and cleft lip and palate. Sometimes this is concurrent with Hirschsprung disease.

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