146 - VATER Association

Abstract

VACTERL (vertebral, anal, cardiac, tracheal, esophageal, renal, and limb anomalies) association is a nonrandom association of congenital malformations. Associated findings of this association include vertebral anomalies (including but not limited to hemivertebrae, scoliosis), anal atresia (imperforate anus), tracheoesophageal fistula (esophageal fistula, duodenal atresia), renal anomalies (hydronephrosis, cystic kidneys, renal agenesis), as well as cardiac (including but not limited to ventricular septal defect, atrial septal defect, tetralogy of Fallot) and radial ray/limb abnormalities (hypoplastic/aplastic radial ray, poly/syndactyly). Intelligence is usually unaffected. VACTERL association remains a clinical diagnosis and one of exclusion, as there is currently no genetic testing available for confirmation. The prevalence of this association varies widely, most likely because of the phenotypic variability of affected individuals and number of abnormalities required to make a clinical diagnosis. VACTERL association has traditionally been thought to be a sporadic event; however, copy number variations may play a role. Providing accurate recurrence risk is difficult but is generally low (as long as other conditions have been excluded), and detailed family history information can be helpful in adjusting the recurrence risk.