Waardenburg 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. It is named after Dutch ophthalmologist Petrus Johannes Waardenburg (1886-1979), who first defined it in 1951. Other names for the syndrome include Van der Hoeve / Halbertsma / Gualdi syndrome, Ptosis-Epicanthus syndrom, and Mende syndrome. Several subtypes of the disorder are known.

Subtypes of Waardenburg syndrome

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Subtypes of the syndrome are traceable to different genetic variations:

• Type I: associated with mutations in the paired box 3 (PAX3) gene.
• Type IIa: associated with mutations in the microphthalmia-associated transcription factor (MITF) gene
• Type IIb: associated with a locus designated WS2B
• Type IIc: associated with a locus designated WS2C
• Type IId: associated with a deletion in the SNAI2 gene. Very rare.
• Type III: associated with mutations in the paired box gene 3 (PAX3) gene
• Type IV: Waardenberg-Hirschsprung disease, or Waardenburg-Shah syndrome, is associated with mutations in the endothelin-B receptor gene (EDNRB), the gene for its ligand, endothelin-3 (EDN3), or in the SRY-related HMG-box gene 10 (SOX10) gene. This subtype may include neurologic manifestations.

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