VATER/VACTERL

Congenital, Neonatology

VATER and VACTERL

Acronym for:

  • vertebral defects,
  • anal atresia,
  • tracheoesophageal fistula with
  • esophageal atresia [so should be VATOR in UK]
  • and radial dysplasia.

Nearly all cases sporadic, with no recognized teratogen or chromosomal abnormality. More common in infants of diabetic mothers.

VACTERL is the expanded syndrome, acronym for

  • vertebral anomalies, anal atresia,
  • cardiac malformations (Ventricular septal defects, Patent ductus arteriosus, Tetralogy of Fallot, Transposition of the great arteries),
  • tracheoesophageal fistula, esophageal atresia
  • renal anomalies (urethral atresia with hydronephrosis), and
  • limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb).

Diagnosis made if 3 or more defects are present.