page_title: Waardenburg syndrome
section_title: Signs and symptoms
hierarchical_section_title: Waardenburg syndrome / Signs and symptoms
caption_attribution_description: English: Facial appearance of a boy from China with Waardenburg syndrome type 1, caused by a mutation in the PAX3 gene
context_page_description: Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes, a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there is also a wider gap between the inner corners of the eyes called telecanthus, or dystopia canthorum. In type 3, which is rare, the arms and hands are also malformed, with permanent finger contractures or fused fingers, while in type 4 the person also has Hirschsprung's disease, which is a congenital lack of nerves in the intestines leading to bowel dysfunction. There also exist at least two types that can result in central nervous system symptoms such as developmental delay and muscle tone abnormalities.
  The syndrome is caused by mutations in any of several genes that affect the division and migration of neural crest cells during embryonic development.
context_section_description: Waardenburg syndrome has multiple different types with some variations in symptoms, and symptoms can vary among those with the same type. The two features consistent across all types of Waardenburg syndrome are some degree of congenital sensorineural hearing loss and some degree of pigmentation deficiencies, most consistently in the eyes.
caption: Facial appearance of a boy from China with Waardenburg syndrome type 1
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