What Is Waardenburg Syndrome?
5. Waardenburg Syndrome Type 2
In patients with Waardenburg syndrome type 3, mutations in PAX3 have also been found. It is thought that it may be inherited in an autosomal dominant pattern. There are some cases where it is thought to be due to a manifestation of homozygous mutations of the gene.
In type 3, the patients may experience changes in their skin pigmentation, progressive hearing loss, and anomalies of the upper limbs due to minor defects in structures arising from the neural crest. There can be fusion of the carpal bones, hypoplasia of the musculoskeletal system, and flexion contractures. Waardenburg syndrome type 3 is also known as the Waardenburg-Klein syndrome. It is the rarest form of Waardenburg syndrome.
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