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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 ...
Type 1 is characterised by congenital sensorineural hearing loss, pigmentary deficiencies of the hair such as a white lock of hair in the front-centre of the head or premature greying, pigmentary deficiencies of the eyes such as different-coloured eyes (complete heterochromia iridum), multiple colours in an eye (sectoral heterochromia iridum) or brilliant blue eyes, patches of skin ...
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 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]
Trisomy 18 is a fatal chromosomal condition that can be detected during pregnancy.It's also at the center of a new legal case in Texas, where a mom of two, Kate Cox, is seeking an abortion after ...
This uncommon condition usually results due to uneven melanin content. A number of causes are responsible, including genetic, such as chimerism, Horner's syndrome and Waardenburg syndrome. A chimera can have two different colored eyes just like any two siblings can—because each cell has different eye color genes.
Some genetic conditions that result in a "leucistic" appearance include piebaldism, Waardenburg syndrome, vitiligo, Chédiak–Higashi syndrome, flavism, isabellinism, xanthochromism, axanthism, amelanism, and melanophilin mutations. Pale patches of skin, feathers, or fur (often referred to as "depigmentation") can also result from injury.