VACTERL Association is a sporadic constellation of non-random findings that occur together. VACTERL is an acronym for these seven features and stands for Vertebral anomalies, Anal atresia, Cardiovascular anomalies, Tracheo-esophageal fistula, Renal abnormalities, and Limb anomalies. Interestingly, very few cases of VATER Association have been found to show all the above features; most patients show three to four features. The most common feature in these patients are vertebral anomalies, with about 70% of patients having hypoplastic vertebra or hemivertebra. These anomalies may not be critical at birth, but can cause complications later in life. The cardiovascular anomalies seen in this condition include a variety of congenital heart diseases, including ventricular septal defect, atrial septal defects, tetralogy of Fallot, truncus arteriosus, and transposition of the great arteries. Renal abnormalities can range from mild to severe form. Limb defects include polydactyly, syndactyly, and forearm defects in one or both sides. Growth retardation is also seen in patients, although most have normal mental development. Worldwide, 16 in 100,000 live births are estimated to be affected. Interestingly, infants born to diabetic mothers are more prone to be affected with VATER.
A diagnosis of VATER is made if any three of the seven key features of the association are present. Some of the features, especially vertebral, cardiac, renal, and limb defects can be seen via prenatal ultrasound analysis. Each feature has to be managed or treated in its own way, independent of the other defects present. For instance, complete kidney failure will require a transplant, whereas cardiac defects require corrective surgery. A good prognosis depends upon the successful treatment of each of the defects.
VATER Association has not been attributed to any specific genetic defect. It appears to be sporadic in most cases. Certain chromosomal abnormalities have been observed in a few patients. These include deletions in the long arm of chromosome 13, chromosome 6, and extra marker from chromosome 12. Many patients have also been seen to be trisomic for chromosome 18.