Albinism–deafness syndrome
Template:Infobox medical condition (new) Albinism–deafness syndrome is a rare condition characterized by congenital neural deafness and a severe or extreme piebald-like phenotype with extensive areas of hypopigmentation.[1]
A locus at Xq26.3-q27.1 has been suggested.[2]
It has been suggested that it is a form of Waardenburg syndrome type II.[3]
Presentation
Males affected by albinism-deafness syndrome present with profound sensorineural deafness and severe pigmentary abnormalities of the skin (piebald pigmentary variegation).
Female carriers present with variable hearing impairment without pigmentary abnormalities.[4]
Cause
The gene that causes albinism-deafness syndrome is thought to be located on the q arm of the X chromosome. It has been variously mapped to Xq26.3-q27.1 and Xq24-q26 using DNA probes.[4]
See also
References
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