VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal anomalies (R), and limb abnormalities (L). People diagnosed with VACTERL association typically have at least three of these characteristic features. Affected individuals may have additional abnormalities that are not among the characteristic features of VACTERL association.
A cluster of congenital malformations is found at birth or in the first days of life and includes at least three component features:
- vertebral defects (60-80% of patients, commonly accompanied by rib anomalies
- imperforate anus/anal atresia (55-90%)
- cardiac defects (40-80%)
- tracheo-esophageal fistula (50-80%), with or without esophageal atresia
- renal anomalies (50-80%) including renal agenesis
- horsehoe kidney
- cystic and/or dysplastic kidneys
- limb abnormalities (40-50%).
Limb defects are classically defined as radial anomalies, including thumb aplasia/hypoplasia, and have variable degrees of severity; other types of limb anomalies have also been reported. While the above malformations are considered to be the core component features, many other malformations have been described in affected patients. These non-typical malformations should be used as clues in considering other possible conditions.
VACTERL association is a complex condition that may have different causes in different people. In some people, the condition is likely caused by the interaction of multiple genetic and environmental factors. Some possible genetic and environmental influences have been identified and are being studied.
The developmental abnormalities characteristic of VACTERL association develop before birth. The disruption to fetal development that causes VACTERL association likely occurs early in development, resulting in birth defects that affect multiple body systems. It is unclear why the features characteristic of VACTERL association group together in affected individuals.
Diagnosis of VACTERL/VATER association is based on the clinical picture at birth.
If optimal surgical correction is achievable, the prognosis can be relatively good, though some patients will continue to be affected by their congenital malformations throughout life. Importantly, patients with VACTERL association do not tend to have neurocognitive impairment.
Management typically centers around surgical correction of the specific congenital anomalies (typically anal atresia, certain types of cardiac malformations, and/or tracheo-esophageal fistula) in the immediate postnatal period, followed by long-term medical management of sequelae of the congenital malformations.