Waardenburg syndrome (WS) is an auditory-pigmentary disorder consisting of four clinical subtypes. WS1 and WS3 are defined by deafness, depigmentation features and dysmorphology. WS3 individuals also have musculoskeletal abnormalities of the upper limbs. The Paired Box Gene 3 (PAX3) on chromosome 2q35 is the only gene known to be associated with WS1 and WS3 with point mutations identified in more than 90% of affected individuals. Partial and total gene deletions have also been described and may represent 10% of cases without identified point mutations.
Also known as
WS1 � Waardenburg syndrome with dystopia canthorum, WS3 � Klein-Waardenburg syndrome/ Waardenburg syndrome with upper limb anomalies
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square