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. A locus at Xq26.3-q27.1 has been suggested. It has been suggested that it is a form of Waardenburg syndrome type II.
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.
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.
See also Albinism in humans
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