Albinism–deafness syndrome
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.Female carriers present with variable hearing impairment without pigmentary abnormalities.