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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 ...
Image credits: itsaboatnotaboot Pollen, dust, animal, and certain food allergies (e.g., to nuts, shellfish, and dairy) are fairly common. But their severity has a huge range.
This phenotype is due to a mutation in the same gene that results in Type IV oculocutaneous albinism in humans. [ 6 ] Leucism is often used to describe the phenotype that results from defects in pigment cell differentiation and/or migration from the neural crest to skin, hair, or feathers during development .
The estimate suggests that the condition is slightly less common than Rett syndrome, a genetic disorder that causes babies to rapidly lose coordination, speech and mobility and affects about 1 in ...
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 ...