What Is Waardenburg Syndrome?
6. Waardenburg Syndrome Type 3
Waardenburg syndrome type 4 has been studied using a zebrafish model and is thought to be caused by homozygous mutations in the EDNRB or EDN3 gene. These mutations lead to Hirschsprung disease. Other mutations that have been reported in this subtype include the SOX10 gene.
When SOX10 mutations are present, it is thought to cause a more severe type where there is central dysmyelinating leukodystrophy and peripheral demyelinating neuropathy. It can be further divided into 3 other types. Also known as the Waardenburg-Shah syndrome, patients tend to experience hearing loss, pigmentation in the hair, skin, or eyes, and Hirschsprung disease resulting in severe constipation and intestinal blockage.
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