Deafness, Congenital, With Vitiligo And Achalasia

Rozycki et al. (1971) described a syndrome of deafness associated with short stature, vitiligo, muscle wasting, and achalasia. See 606579 for the association of vitiligo and congenital deafness, and 142623 and 193500 for a description of congenital deafness with Hirschsprung disease, another aganglionic state. Reference to an association of achalasia and leukoderma was given by McKusick (1973). Rozycki et al. (1971) observed affected brother and sister with first-cousin parents.