VACTERL/VATER association—Can a patient with VACTERL association live independently?

Abstract

The VACTERL/VATER association is a statistically nonrandom cooccurrence of a group of congenital malformations, including vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistulas, renal anomalies, and limb abnormalities. Because no pathogenetic relation has been found between these malformations, the term “association” is used instead of “syndrome”. The incidence of VACTERL association is about 1/10,000e1/40,000 births. No geographical or ethnic differences have been found. The association is defined as at least three component features without clinical or laboratory-based evidence of an alternative diagnosis. Management of VACTERL association is focused on treating issues related to each component feature. The immediate management includes repair of tracheoesophageal fistulas, anal atresia, and severe cardiac defects. Dysphagia, esophageal strictures, gastroesophageal reflux, tracheomalacia, recurrent pneumonia, constipation, fecal incontinence, severe low back pain due to vertebral anomalies, and recurrent nephrolithiasis due to renal anomalies are important issues in long-term management. Fortunately, according to Lin et al’s study in 2010, the daily functional skills of Taiwanese children with VACTERL association without brain damage are similar to those of unaffected children. It is vital for the family and society to care for the patient with VACTERL association.