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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.
Albinism is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers.
The disorder can cause heart abnormalities and seizures if the amount of methemoglobin in the blood exceeds 20 percent, but at levels between 10 and 20 percent it can cause blue skin without other symptoms. Most of the Fugates lived long and healthy lives. The "bluest" of the blue Fugates, Luna Stacy, had 13 children and lived to age 84. [6]
There is a birth defect of the ear that is visible and relatively common around the world. It is called preauricular sinus which, according to the U.S. National Institutes of Health, or NIH ...
Mason van Dyk (born 2013), despite being given a life expectancy of one to five days, was 5 years old as of July 2018. [35] Doctors told his mother, Lisa van Dyk, that he was the first case of harlequin ichthyosis in South Africa, and that she has a one-in-four chance of having another child with the disease .
Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck. [1] In some individuals and families, renal features are completely absent. The disease may then be termed "branchio-oto syndrome" (BO syndrome). [6] [7]
Oculocutaneous albinism (OCA): A group of inherited disorders that affect melanin production, causing pale skin, hair, and eyes. [11] Griscelli syndrome: A rare genetic condition characterized by pigmentary dilution and immunodeficiency. [12] Chediak-Higashi syndrome: This genetic disorder results in pigmentary abnormalities and immune system ...
This is a list of notable people who have been documented as having heterochromia iridis, a condition when the irises have different colours. People who are frequently mistakenly thought to have heterochromia are not included, but may be listed in the Notes section.