Albinism–deafness syndrome is a condition characterized by
congenital neural deafness
Deafness has varying definitions in cultural and medical contexts. In medical contexts, the meaning of deafness is hearing loss that precludes a person from understanding spoken language, an audiological condition. In this context it is written ...
and a severe or extreme
piebald
A piebald or pied animal is one that has a pattern of unpigmented spots (white) on a pigmented background of hair, feathers or scales. Thus a piebald black and white dog is a black dog with white spots. The animal's skin under the white backgro ...
-like phenotype with extensive areas of
hypopigmentation
Hypopigmentation is characterized specifically as an area of skin becoming lighter than the baseline skin color, but not completely devoid of pigment. This is not to be confused with depigmentation, which is characterized as the absence of all pi ...
.
A locus at Xq26.3-q27.I has been suggested.
It has been suggested that it is a form of
Waardenburg syndrome
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 foreloc ...
type II.
See also
*
Albinism
Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and pink or blue eyes. Individuals with the condition are referred to as albino.
Varied use and interpretation of the term ...
References
External links
Albinism
Disturbances of human pigmentation
Syndromes affecting the skin
Syndromes with sensorineural hearing loss
Rare genetic syndromes
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