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Waardenburg syndrome

Abnormal embryonic migration of auditory nerve cells. Genetics: 1) autosomal dominant 2) mutations in 2 genes encoding DNA-binding proteins a) Pax-3 (type 1) b) MITF (type 2A) Clinical manifestations: 1) congenital sensorineural hearing loss 2) dystopia canthorum (lateral displacement of the inner canthi of the eyes, but normal interpupillary distance) 3) heterochromic irises 4) broad nasal root 5) piebaldism

Related

iris of the eye (orris, I) piebaldism (partial albinism) sensorineural hearing loss

Specific

Waardenburg syndrome type 1 Waardenburg syndrome type 2 Waardenburg syndrome type 3; Klein-Waardenburg syndrome; Waardenburg syndrome with upper limb anomalies or white forelock with malformations Waardenburg syndrome type 4 (Waardenburg-Shah syndrome)

General

genetic syndrome (multisystem disorder)

References

  1. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 296
  2. Stedman's Medical Dictionary 26th ed, Williams & Wilkins, Baltimore, 1995
  3. Waardenburg Syndrome [NIDCD Health Information] http://www.nidcd.nih.gov/health/hearing/waard.asp