Hirschsprung's disease and congenital deafness. Familial assocation

Hum Genet. 1977 Sep 22;38(2):157-61. doi: 10.1007/BF00527397.


A family is described showing deafness in three consecutive generations. Hirshchsprung's disease was present in at least two of the affected patients and a history of bowel dysfunction was present in the third. The assocation of the two disorders in this family may be due to a single autosomal dominant gene and in this regard differs from previously reported isolated patients with Hirschsprung's disease and deafness.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • Deafness / complications*
  • Deafness / congenital
  • Deafness / genetics
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Megacolon / complications*
  • Megacolon / genetics
  • Middle Aged
  • Pedigree