Fryns syndrome: a lethal birth defect with variable phenotypic expressions in siblings

Indian J Pediatr. 2014 Jun;81(6):614-6. doi: 10.1007/s12098-013-1011-1. Epub 2013 Apr 19.


Fryns syndrome (FS) is a multiple congenital anomaly syndrome, inherited as an autosomal recessive defect with variable expression. The authors report a newborn with FS, whose mother had two previous affected pregnancies with the infants having variable phenotypic expression. FS is characterized by craniofacial dysmorphism, diaphragmatic hernia and distal limb hypoplasia. This is the first published report from India describing a case of FS with familial recurrence, which would serve further to illustrate the clinical variability of this disorder.

Publication types

  • Case Reports

MeSH terms

  • Facies
  • Fatal Outcome
  • Hernia, Diaphragmatic / genetics*
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital / genetics*
  • Male
  • Phenotype

Supplementary concepts

  • Fryns syndrome