VACTERL association

VACTERL association

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VACTERL is a constellation of birth defects that tend to co-occur. It is considered an association rather than a syndrome as there is no known pathogenetic cause for the grouped symptoms.

Signs and symptoms

• V – Vertebral anomalies
• A – Anal atresia
• C – Cardiovascular anomalies
  • most commonly ASD, VSD, or Tetralogy of Fallot
  • less commonly truncus arteriosus and transposition of the great arteries
• T – Tracheoesophageal fistula
• E – Esophageal atresia
• R – Renal (Kidney) and/or radial anomalies
• L – Limb defects

Diagnosis

VACTERL is typically defined as >=3 of the above defects.

Epidemiology

No specific genetic or chromosome problem has been identified with VACTERL association. VACTERL can be seen with some chromosomal defects such as Trisomy 18 and is more frequently seen in babies of diabetic mothers. VACTERL association, however, is most likely caused by multiple factors.