Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?

J Med Genet. 1988 Nov;25(11):758-61. doi: 10.1136/jmg.25.11.758.


Three children are reported, a male and female sib pair of Sikh origin and a male child who was the offspring of first cousin Pakistani Muslims, with Hirschsprung's disease, hypoplastic nails, and similar minor dysmorphic features. We consider that they represent a distinct autosomal recessive syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child
  • Female
  • Genes, Recessive
  • Hirschsprung Disease / genetics*
  • Humans
  • Infant
  • Male
  • Nails, Malformed / genetics*