VACTERL: VACTERL Association (sometimes referred to as VATER syndrome/association) is an acronym used to describe a series of non-random birth defects which occur together.
V stands for vertebral anomalies
A stands for imperforate anus or anal atresia
C stands for cardiac (heart) defects. The most common heart defects seen with VACTERL association are ventricular septal defect (VSD), atrial septal defects (ASD), and tetralogy of Fallot.
TE stands for tracheal-esophageal fistula (TEF) or esophageal atresia (EA). Tracheal-esophageal fistula is an abnormal connection between the trachea (wind pipe) and the esophagus. Esophageal atresia occurs when the upper part of the esophagus does not connect with the lower esophagus and stomach.
R stands for renal or kidney anomalies.
L stands for limb abnormalities which can include a displaced or hypoplastic thumb, extra digits (polydactyly), fusion of digits (syndactyly), and forearm defects such as radial aplasia.
Babies diagnosed as having VACTERL association usually have at least three or more of these individual anomalies. Due to the wide range of manifestation of VACTERL association the exact incidence within the population is not known, but has been estimated to occur in one in 10,000 to 40,000 newborns. The reason it is called an association, rather than a syndrome, is that the complications are not pathogenically related but do tend to occur together more frequently than expected by chance. VACTERL association can be linked to other similar conditions such as Klippel Feil and Goldenhar Syndrome including crossovers of conditions; however, no specific genetic or chromosomal abnormalities have been identified with VACTERL association. Affected individuals may have additional abnormalities that are not among the characteristic features of VACTERL association.
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