A Population Study of the VACTERL Association: Evidence for Its Etiologic Heterogeneity

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Abstract
Using the population-based data from the Metropolitan Atlanta [Georgia, USA] Congenital Defects Program, the interrelation of the 6 defects that are components of the VACTERL [vertebral defects, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, radial renal anomalies, limb defects] association were investigated. There were 400 cases with 2 or more of these defects; only 29 cases would be expected if the defects had occurred together randomly. There were 76 cases with 3 or more defects; less than 1 case was expected. Of these 76 cases, 7 had recognized causes (5 chromosomal anomalies, 2 single-gene disorders); another 19 had recognized clinical phenotypes or syndromes of unknown etiology. In the remaining 50 cases, ventricular septal defect was the most common cardiovascular defect (30.0%) and renal agenesis was the most common renal anomaly (30%). Their most common limb defects were reduction deformities (34%) and polydactyly (20%). This study confirms the clinically recognized nonrandom occurrence of the VACTERL association. It also shows that the association is a spectrum of various combinations of its components, which can be a manifestation of several recognized disorders, rather than a distinct anatomic or etiologic entity. A common denominator of the VACTERL association is suggested to be a defective mesodermal development during embryogenesis, due to a variety of causes and leading to overlapping manifestations.