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.
Sultan (1983) described an Egyptian male neonate diagnosed with the VATER association. The child was born to healthy non-related parents after a normal delivery. The mother was not exposed to any teratogens during the gestation. Immediately after birth, he was found to have esophageal atresia with tracheo-esophageal fistula, which was treated in stages. This involved gastrotomy for stomach drainage, enterostomy for feeding, and pelvic loop colostomy, all in the first day of his life, and a right thoracotomy and transpleural ligation of the fissure at the age of 11-days. Other abnormalities noted in the child included anal atresia, lumbar and sacral defects, right aortic arch anomaly, and bilateral undescended testes. At the age of 1-year, colonic segment replacement of esophagus was performed. The child followed normal developmental milestones and performance.
[Sultan A. The VATER association: a spectrum of associated defects. Qatar Med J. 1983; 4(1):57-60.]
Telmesani (1994) described a Jordanian baby girl, born prematurely at 36 weeks gestation. She was found to have myelomeningocele associated with duplication of the rectum, urinary bladder, ureters and vagina. Telmesani (1994) suggested that this is most likely to have resulted from duplication of the cloaca during early development and questioned whether or not this case represented a modification of the VACTERL syndrome since the child also had a cardiac defect.
Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in Nizwa Hospital. Of the 21,988 total births in the hospital, one child was born with VATER Association.
Sultan (1983) described a Palestinian male neonate diagnosed with Vthe ATER association. The child was born to healthy related parents after a normal delivery. The 18-year old mother was not exposed to any teratogens during the gestation. Immediately after birth, he was found to have esophageal atresia with tracheo-esophageal fistula, which was treated by gastrotomy and pelvic loop colostomy, followed by a right sided extrapleural thoracotomy and ligation of the fistula. Other abnormalities noted in the child included anal atresia, radial limb dysplasia with bifid left thumb and rudimentary right thumb, ventricular septal defect and a single umbilical artery. The child's post-operative recovery was good. Two months later, he underwent circumcision for phimosis.
[See: Egypt, Palestine > Sultan, 1983].
Malaki (2012) described a neonate girl who presented with ambiguous genitalia including microphallus, bilateral inguinal hernias, empty scrotum, and small urethra opened in the distal part of the phallus. She underwent surgery to correct her imperforated anus that was in low position. In addition, she had skeletal abnormalities including a clubbed left foot. Her cardiac exam revealed a systolic murmur and the echocardiography showed multiple anomalies including atrial septal defect, hypertension of the pulmonary artery and the left arched aorta, and large ventricular septal defect in both the apical muscular part and patent ductus arteriosus. Renal sonography showed that her right kidney was absent, and her left kidney size was normal (4.6 cm). She also suffered from unilateral renal agenesis. At the time of the writing of this report, the patient was 9 months of age and was under constant medical treatment.