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Miscellaneous Associations
VACTERL Association
An association is a term used to designate the nonrandom tendency of some malformations to occur together more commonly than would be expected by chance, without being components of a syndrome. VACTERL is an acronym that stands for v ertebral, a nal, c ardiac, t racheal, e sophageal, r enal, and l imb. VACTERL association defects include vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, renal dysplasia, and limb/radial defects. For a diagnosis of VACTERL to be entertained, it has been suggested that three or more of the associated malformations be present. Prenatal growth deficiency and single umbilical artery are also nonrandom features of this pattern of anomalies. The general spectrum of the pattern in 34 cases is presented subsequently, as summarized by Temtamy and Miller. Initially described as VATER association, another “R” was added when renal anomalies were included, followed by a “C” for cardiac; “L” for limb eventually replaced the “R” for radial anomaly.
Abnormalities
| Vertebral anomalies | 90% |
| Cardiac defects | 75% |
| Anal atresia with or without fistula | 50% |
| Tracheoesophageal fistula with esophageal atresia | 50% |
| Renal anomaly | 53% |
| Radial dysplasia, including thumb or radial hypoplasia, preaxial polydactyly, syndactyly | 50% |
| Single umbilical artery | 35% |
Other, Less Frequent Defects
Prenatal growth deficiency, postnatal growth deficiency, laryngeal stenosis, bronchial anomalies, ear anomaly, large fontanels, defect of lower limb (23%), rib anomaly, defects of external genitalia, occult spinal dysgraphia with tethered cord.
Natural History
Although many of these patients may fail to thrive and have slow developmental progress in early infancy related to their defects, most of them have normal brain function. Adults with VACTERL association have a number of difficulties often related to the primary malformations. Those with vertebral defects often experience significant back, shoulder, and/or neck pain. Sequelae of anal anomalies include constipation and obstruction as well as functional stooling problems. Following surgical repair of tracheoesophageal fistula, dysphagia, choking, and reflux, both reactive airway disease and tracheomalacia can occur. Nephrolithiasis and urinary tract infections are common sequelae of renal defects.
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