Hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated children

Clin Dysmorphol. 2001 Jul;10(3):157-63. doi: 10.1097/00019605-200107000-00001.


We report five patients with Hirschsprung disease, severe mental retardation and dysmorphic facial features including hypertelorism, prominent forehead and dysmorphic ears. All four boys had hypospadias. All had postnatally retarded growth. One of them had a de novo apparently balanced translocation 46,XY,t(2;11)(q22.2;q21). There are several reports on patients with Hirschsprung disease, mental retardation and various dysmorphic features. Some of them, especially those reported by Tanaka et al. [(1993) Pediatr Neurol 9:479-481], Lurie et al. [(1994) Genet Couns 5:11-14] and Mowat et al. [(1998) J Med Genet 35:617-623] closely resemble our patients suggesting that they have the same malformation syndrome.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 2
  • Facies
  • Female
  • Hirschsprung Disease / genetics
  • Hirschsprung Disease / pathology*
  • Humans
  • Hypertelorism / genetics
  • Hypertelorism / pathology*
  • Hypospadias / genetics
  • Hypospadias / pathology
  • Infant
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology*
  • Male
  • Translocation, Genetic