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Definition of VACTERL association

VACTERL association: A nonrandom association of birth defects. VACTERL is a mnemonic in which the letters each stand for one or more type of malformation:

  • V = Vertebral anomalies; and
  • A = Anal atresia (no hole at the bottom end of the intestine);
  • C = Cardiac defect, most often ventricular septal defect;
  • TE = TracheoEsophageal fistula (communication between the esophagus and trachea) with esophageal atresia (part of the esophagus is not hollow);
  • R = Renal (kidney) abnormalities; and
  • L = Limb abnormalities, most often radial dysplasia (abnormal formation
    of the thumb or the radius bone in the
    forearm).

    • The VACTERL association has been recurrently observed in newborn babies. It is more common in the children of diabetic mothers than in the general population. For some years that was all that was known about the cause of the VACTERL association. The VACTERL association has been linked to inhibition of cholesterol synthesis and down-regulation (the damping down) of a biochemical pathway in the shaping of the embryo that requires cholesterol. Treatment involves surgery to correct the physical defects, as possible.