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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 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 ...
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 ...
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]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Human piebaldism has been observed to be associated with a very wide range and varying degrees of endocrine disorders, and is occasionally found together with heterochromia of the irises, congenital deafness, or incomplete gastrointestinal tract development, possibly all with the common cause of premature cutting off of human fetal growth ...
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.
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.