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Waardenburg syndrome or Waardenburg-Klein syndrome is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies.
Waardenburg syndrome is named after Dutch ophthalmologist Petrus Johannes Waardenburg (1886-1979), who described the syndrome in detail in 1951.[1][2] The condition he described is now categorized as WS1. Swiss ophthalmologist David Klein also made contributions towards the understanding of the syndrome.[3]
WS2 was identified in 1971, to describe cases where “dystopia canthorum” did not present.[4] WS2 is now split into subtypes, based upon the gene responsible.
Other types have been identified, but they are less common.
Subtypes of the syndrome are traceable to different genetic variations:
There are several other names used. These include Klein-Waardenburg syndrome, Mende’s syndrome II, Van der Hoeve-Halbertsma-Waardenburg syndrome, Ptosis-Epicanthus syndrome, Van der Hoeve-Halbertsma-Gualdi syndrome, Waardenburg type Pierpont[5], Van der Hoeve-Waardenburg-Klein syndrome, Waardenburg’s syndrome II, and Vogt’s syndrome.
Types I and II are the most common types of the syndrome, whereas types III and IV are rare. Overall, the syndrome affects perhaps 1 in 42,000 people. About 1 in 30 students in schools for the deaf have Waardenburg syndrome. All races and both sexes are affected equally. The highly variable presentation of the syndrome makes it difficult to arrive at precise figures for its prevalence.
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