VACTERL association
Pronunciation: VAK-terl uh-soh-see-AY-shuhn
Also written as: VACTERL — Vertebral defects, Anal atresia, Cardiac defects, Tracheoesophageal fistula, Esophageal atresia, Renal abnormalities, Limb defects
Non-random pattern of birth defects affecting vertebrae, anal, cardiac, tracheal, esophageal, renal, and limb structures.
Full Definition
VACTERL association is a non-random constellation of congenital anomalies that includes Vertebral defects, Anal atresia, Cardiac defects, Tracheoesophageal fistula with Esophageal atresia, Renal abnormalities, and Limb defects. Diagnosis requires the presence of at least three of these component features. Unlike a syndrome, VACTERL association does not have a known single underlying etiology or consistent pattern of inheritance. The association helps clinicians recognize that when certain birth defects occur together, systematic evaluation for other components is warranted. Management requires a multidisciplinary approach addressing each affected system.
Usage
Usage note: Write as 'VACTERL association' not 'syndrome' - this is an association of features, not a defined genetic syndrome.
In Context
- "The presence of esophageal atresia, cardiac defect, and renal anomalies suggested VACTERL association." — Clinical genetics evaluation
- "Systematic screening for all VACTERL components is indicated when multiple defects are identified." — Multidisciplinary care planning