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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 (or one blue eye and one brown eye), a white forelock or patches of light skin.
Similar to other types of Waardenburg syndrome, Shah-Waardenburg syndrome patients present with some facial features such the abnormal pigmentation in the hair and premature graying, observed as white forelock. Their eyes also present abnormal pigmentation such as heterochromia iridis or uncharacteristic blue eyes. [1]
Waardenburg syndrome type 1 is a congenital disorder that caused by a mutation in the PAX3 gene that results in abnormal development in the neural crest during early development. Type 1 results in early graying and white forelock and a notable distance between the eyes, noted as dystopia canthorum. Common symptoms of the disease also includes ...
Blue eyes are predominant in northern and eastern Europe, particularly around the Baltic Sea. ... Horner's syndrome and Waardenburg syndrome.
Deafness can occur in white cats with yellow, green or blue irises, although it is mostly likely in white cats with blue irises. [4] In white cats with one blue eye and one eye of a different color (odd-eyed cats), deafness is more likely to affect the ear on the blue-eyed side. [1] Approximately 50% of white cats have one or two blue eyes. [5]
Waardenburg syndrome type 2D, a subtype of the Waardenburg syndrome, is a rare congenital disorder caused by a mutation in the SLUG (SNAI2) gene. It is characterized by the lack of pigmentation in the skin, hair, and eyes as well as the abnormalities in the outer wall of the cochlea .
Petrus Johannes Waardenburg (3 June 1886 – 23 September 1979) was a Dutch ophthalmologist, geneticist, and pioneer in the application of genetics to ophthalmology. Waardenburg syndrome is named after him.
Sanjati has a distinctive facial appearance, with a streak of white hair and very blue eyes that appear further apart than most people's. This is due to a genetic condition known as Waardenburg syndrome. The condition has also left Sanjati deaf in her left ear. [4]