VACTERL association is defined by the presence of at least 3 of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies and limb abnormalities. In addition to these core component features, patients may also have other congenital anomalies.
Each letter of the mnemonic stands for one or more type of malformation. It is an association rather than a syndrome, as there is no evidence that the malformations are pathogenetically related. However, they occur together more frequently than expected by chance. Originally described in 1973 by Quan and Smith, as VATER association (acronym standing for Verterbral anormalies, Anal atresia, Tracheo-oesophageal fistula with Oesphageal atresia, Radial and Renal dysplasia). In 1974, Temtamy and Miller included ventricular septal defect and single umbilical artery to the ‘V’. But in 1975 this was changed to VACTERL by Kaufman and Nora and Nora (where ‘C’ stood for Cardiac anomalies and ‘L’ included limb rather than just radial anomalies).