Medicine:Deafness-vitiligo-achalasia syndrome

From HandWiki
SpecialtyMedical genetics
CausesAutosomal recessive inheritance
Risk factorsBeing born to consanguineous parents

Deafness-vitiligo-achalasia syndrome is an extremely rare genetic disorder characterized by congenital hearing loss, vitiligo, low height, muscle degeneration and achalasia.[1][2] It was first discovered in 1971, when Rozycki et al., when they described two siblings of the opposite sex with the symptoms mentioned above.[3][4][5] It is thought to be inherited in an autosomal recessive manner.