VACTERL Association


  • Concurrence of at least three of the following component congenital features (with no clinical or laboratory-based evidence of an alternate diagnosis:
    • (V)etebral anomalies
    • (A)norectal anomalies
    • (C)ardiac malformations
    • (T)racheo(E)ophageal fistula
    • (R)enal dysplasia
    • (L)imb abnormalities
  • (Additional congenital abnormalities are also possible in addition to those named above--i.e. a single umbilical artery is common)
  • 90% of patients diagnosed with VACTERL association have 3 or fewer phenotypes and only <1% of patients have all six anomalies


  • Frequency: 1-9/100,000 infants
  • More common in males
  • Increased incidence in infants of diabetic mothers
  • 90% of cases appear to be sporadic with little incrased risk of having multiple affected individuals within a family
  • Malformations are observed in up to 10% of first-degree relatives of patients, providing some evidence for an inherited component in a subset of patients


  • Hypothesized to be a faiure of the notochord to regionally organize the axial structures as well as failure of apoptosis to correctly separate developing structures
  • Abnormalities range in severity

Vetebral (most common anomaly)

  • Can be a failure of formation (such as hemivertebrae, butterfly or wedge shaped vertebrae) or a failure of segmentation (such as vertebral bars, fused vertebrae, and block vertebrae)
  • Rib anomalies such as rib fusion and increased or decreased number of ribs commonly present with or without anomalies
  • Clinical signs of scoliosis or kyphosis may be the first sign of vertebral anomalies when VACTERL assocation is suspected past the neonatal period
  • Use imaging to identify vertebral and rib anomalies


  • Most often an imperforate anus or anal atresia
  • Genitourinary (GU) anomalies may also occur in up to 25% of patients


TracheoEsophageal Fistula

  • May be with or without esophageal atresia


  • Common malformations include unilateral renal agenesis (bilateral in severe cases), horseshoe kidney, cystic kidneys, and dysplastic kidneys
  • Hydronephrosis can sometimes be accompained by ureteral or GU anomalies such as ambiguous genitalia (seen in up to 25% of patients with VACTERL association)
  • Vesicoureteral reflux is a common subtler finding and should be checked for in patients suspected of having VACTERL association


  • Most common: radial anomalies (thumb aplasia and hypoplasia)
  • VACTERL limb malformations may also include polydactyly and lower limb anomalies, although this is controversial

Differential Diagnoses:

  • CHARGE syndrome
  • Opitz G/BBB syndrome
  • DiGeorge syndrome
  • Fanconi anemia


Possible long-term sequelae into adulthood:

  • V: Back pain, osteoarthritis, syrinx
  • A: Incontinence, chronic constipation
  • C: Compromised cardiac function
  • TE: GERD, reactive airway disease, dysphagia
  • R: UTIs, renal stones, impaired kidney function, sexual dysfunction
  • L: Functional impairment


Cunningham B. et al. Analysis of Cardiac Anomalies in VACTERL Association. Birth Defects Research Part A, Clinical and molecular teratology. 2013; 97(12): 792-797.

Cunningham B. et al. Analysis of Renal Anomalies in VATERL Association. Birth Defects Research Part A, Clinical and molecular teratology. 2014; 100(10):801-805.

Kaplan, J. and Hudgins, L. Neonatal Presentations of CHARGE Syndrome and VATER/VACTERL Association, NeoReviews. 2008; 9(7): 299-304.

Raam M. et al. Long-term Outcomes of Adults with Features of VATERL Association. European journal of medical genetics, 2011.

Solomon B. VACTERL/VATER Association. Orphanet Journal of Rare Diseases. 2011; 6:56.

Stevenson R, Hunter A. Considering the Embryopathogenesis of VACTERL Association. Molecular Syndromology. 2013; 4(1-2):7-15.

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