Standard syndrome of Waardenburg 1
The standard syndrome of Waardenburg 1 is a genetic disease associating of the anomalies of hearing and the pigmentation.
Deafness is a deafness of transmission congenital, plain or bilateral, not worsening in the life. This Surdité reaches 60% of the individuals carrying the standard syndrome of Waardenburg 1. But it is generally bilateral and deep (>100dB).
The disorders of the pigmentation reach the iris, the skin and the hair. The majority of the individuals reached have is gray hair before 30 years or a wick of hair white. The wick of hair reaches 45% of the syndromes of standard Waardenburg 1 and is the pigmentary anomaly most frequent. The pigmentary disorders of the iris are varied. The leucodermy frequently reaches the face, the trunk and the members.
Sources
- Jeff Mark Milunsky, Standard Waardenburg Syndrome I in GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005
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