VACTERL
Pronunciation: VAK-terl
Also written as: VACTERL — Vertebral defects, Anal atresia, Cardiac defects, Tracheoesophageal fistula, Renal anomalies, Limb defects
Association of congenital anomalies including vertebral, anal, cardiac, tracheoesophageal, renal, and limb defects.
Full Definition
VACTERL association is a non-random pattern of birth defects that includes Vertebral defects, Anal atresia, Cardiac defects, Tracheoesophageal fistula, Renal anomalies, and Limb defects. The diagnosis requires at least three of these component anomalies in the absence of a chromosomal abnormality or known syndrome. While not a syndrome with a single genetic cause, VACTERL association occurs more frequently than would be expected by chance. The 'L' originally stood for 'Limb' but is sometimes expanded to 'VACTERLS' to include single umbilical artery. In pediatric pathology, careful examination for associated anomalies is crucial when any component is identified, as this impacts genetic counseling and management.
Usage
Usage note: Not a syndrome but an association. Older term VATER excludes cardiac and limb defects. Requires ≥3 components for diagnosis.
In Context
- "The presence of esophageal atresia, vertebral anomalies, and renal dysplasia suggested VACTERL association." — Clinical genetics consultation
- "Autopsy findings included multiple anomalies consistent with VACTERL association rather than a specific chromosomal syndrome." — Perinatal autopsy report