VACTERL Association

Epidemiology:

• 1:5000 live births

Common sites:

Gross features:

• V – vertebral defects
• A – anal atresia
• C – cardiac anomalies
• T – tracheo-esophageal fistula
• E – esophageal atresia
• R – renal anomalies
• Urethral atresia with hydronephrosis, renal agenesis…
• L – limb abnormalities
• Hexadactyly, humeral hypoplasia, radial aplasia, proximally placed thumb…
• Diagnosis with the broadest definition requires at least 2 of the above
• Most cases only have 2 or 3
• polyhydramnios

Histologic features:

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

Other features:

• unknown cause
• multifactorial origin
• nearly all are sporadic (only very few cases are familial)
• 48% die within first year of life
• nearly half of patients with TE fistula will exhibit features of VACTERL association

References:

• The VACTERL association: lessons from the Sonic hedgehog pathway.
  Clin Genet. 2001 May;59(5):306-15. Review.
  PMID: 11359461 [PubMed - indexed for MEDLINE]