Syndrome of Waardenburg

The syndrome of Waardenburg is a genetic disease of dominant autosomic Transmission associating a Surdité with anomalies of the Pigmentation of the skin, hair and/or iris.

  • the syndrome of Waardenburg is the most frequent cause of syndromic deafness to dominant transmission. More half of the people reached suffer from deafness It acts of a deafness of transmission (of perception rather, deafnesses of transmission not exceeding 30 to 60 decibels of loss insofar as the internal ear is not affected) plain or bilateral, deep (higher than 100 decibel), pre lingual and stable.
  • the anomaly of the pigmentation most typical, present in about half of the patients, is a houppette grey hair or gray appearing before the 30 years age.
  • Four types of this syndrome exist

Etiology

  • Change of the Gene PAX3 situè on the Locus q35 of the Chromosome 2 coding the Paired box protein Pax-3

standard Syndrome of Waardenburg 1

Standard syndrome of Waardenburg 2

Standard syndrome of Waardenburg 3

Rarest of the 3 types. It is about a type 1 or 2 with anomalies of the members and muscles such as diminishes, fusion of the fingers or bone of the Main

Sources

  • Site in French of information on the orphan rare diseases and drugs
  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 193500 standard Waardenburg 1
  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 193510 standard Waardenburg 2
  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 600193 standard Waardenburg 2B
  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 148820 standard Waardenburg 3
  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 277580 standard Waardenburg 4
  • GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005

See too

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