Familial occurrence of the VATER/VACTERL association

Pediatr Surg Int. 2012 Jul;28(7):725-9. doi: 10.1007/s00383-012-3073-y. Epub 2012 Mar 16.


The acronym VATER/VACTERL association is used to describe the non-random co-occurrence of vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheo-esophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). We report a familial case of VATER/VACTERL association in which both the index case and her maternal uncle displayed four major component features of the disorder. A systematic literature search identified 12 previously described familial cases. However, on comparison, both members fulfilled the diagnostic criteria for VATER/VACTERL association only in one instance, and ours is the second such report. Although, a SNP array-based analysis identified no causal genomic alteration, the findings in the present family suggest that genetic factors are implicated in the development of the disorder.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Anal Canal / abnormalities
  • Anus, Imperforate / diagnosis*
  • Anus, Imperforate / genetics
  • Esophagus / abnormalities
  • Female
  • Genetic Predisposition to Disease / genetics
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / genetics
  • Humans
  • Kidney / abnormalities
  • Limb Deformities, Congenital / diagnosis*
  • Limb Deformities, Congenital / genetics
  • Male
  • Polymorphism, Single Nucleotide
  • Radius / abnormalities
  • Spine / abnormalities
  • Trachea / abnormalities

Supplementary concepts

  • VACTERL association
  • VATER association