Fryns syndrome: a surviving case with associated Hirschsprung's disease and hemidiaphragmatic agenesis

J Paediatr Child Health. 2002 Jun;38(3):318-20. doi: 10.1046/j.1440-1754.2002.00820.x.


Fryns syndrome is a rare autosomal recessive disorder of multiple congenital abnormalities. Major diagnostic criteria include congenital diaphragmatic hernia, distal limb and nail hypoplasia and abnormal facies. More than 70 cases have been reported since the first report in 1979, 86% of which have been associated with an early lethal outcome. We report the case of a survivor who also has associated Hirschsprung's disease. On review of previously reported cases, defects of neuronal migration may be more common than previously recognized. The diaphragmatic hernia was repaired in two stages with a silastic patch followed by a reversed latissimus dorsi muscle flap.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Female
  • Follow-Up Studies
  • Hand Deformities, Congenital / diagnosis*
  • Heart Defects, Congenital / diagnosis*
  • Hernia, Diaphragmatic / diagnosis*
  • Hernia, Diaphragmatic / genetics
  • Hirschsprung Disease / diagnosis*
  • Hirschsprung Disease / therapy
  • Humans
  • Infant, Newborn
  • Intellectual Disability / diagnosis*
  • Syndrome