The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation

Am J Med Genet. 1990 Sep;37(1):106-8. doi: 10.1002/ajmg.1320370125.


Here we report on a boy with Hirschsprung megacolon associated with microcephaly, narrow palpebral fissures, broad nasal bridge, congenital heart defect, cryptorchidism, wide-base gait, short stature, developmental delay and abnormal computed tomography (CT) brain scan. The findings are compared with those of previously described patients with the same syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Brain / abnormalities
  • Child
  • Face / abnormalities*
  • Hirschsprung Disease / complications*
  • Hirschsprung Disease / genetics
  • Humans
  • Intellectual Disability / complications*
  • Intellectual Disability / genetics
  • Male
  • Microcephaly / complications*
  • Microcephaly / genetics
  • Syndrome