VATER and VACTERL
- 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.