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
  • Usually hypoplastic vertebrae or hemivertebrae.
  • Around 80% have vertebral anomalies.
• A – Anal atresia
  • Seen in 55%
• C – Cardiovascular anomalies
  • Most commonly ASD, VSD, or Tetralogy of Fallot
  • Less commonly truncus arteriosus and transposition of the great arteries
• T – Tracheoesophageal fistula
  • Seen in 70%
• E – Esophageal atresia
• R – Renal (Kidney) and/or radial anomalies
  • May have incomplete formation of one or both kidneys
  • May have urologic abnormalities including obstruction of outflow of urine from kidneys or severe reflux of urine from bladder back into the kidney.
  • Seen in 50%
• L – Limb defects
  • Seen in 70%
  • May have displaced or hypoplastic thumb, polydactyly, fusion of digits, or forearm defects (radial aplasia).

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. VACTERL association, however, is most likely caused by multiple factors.

The incidence of VACTERL association is estimated to be approximately 1 in 10,000 to 1 in 40,000 live-born infants. It is seen more frequently in infants born to diabetic mothers. While most cases are sporadic, there are clearly families who present with multiple involved members.