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Heterochromia is a variation in coloration most often used to describe color differences of the iris, but can also be applied to color variation of hair [1] or skin. Heterochromia is determined by the production, delivery, and concentration of melanin (a pigment). It may be inherited, or caused by genetic mosaicism, chimerism, disease, or ...
Waardenburg syndrome type 4A is an extremely rare congenital disorder caused by a mutation in an endothelin receptor gene. It results in common Waardenburg syndrome symptoms such as abnormal hair and skin pigmentation and heterochromia, but also present with symptoms of Hirschsprung's disease.
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.
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 ...
It also results in heterochromia, where the eyes are different colors, in about half of those affected by type 2. [2] Type 2 also contains variation of possible genetic causes, some of which are caused by a mutation in microphthalmia associated transcription factor (also known as MITF) as well as SOX10 genes. [3]
As Thomas told PEOPLE at a Saturday, Jan. 11, benefit concert for the Rady Children’s Hospital of San Diego at New York City’s Bowery Ballroom, Elliot’s rare genetic disorder made him feel ...
Another hypothesis about heterochromia is that it can result from a viral infection in utero affecting the development of one eye, possibly through some sort of genetic mutation. Occasionally, heterochromia can be a sign of a serious medical condition.
Why the fatal genetic disorder is in the news — and what it's like to get the diagnosis. ... This test takes a small sample of cells from the placenta to look for genetic conditions.