Heart & vascular pathology

Congenital anomalies

VACTERL association

Last author update: 1 October 2016
Last staff update: 17 February 2020

Copyright: 2016-2023, PathologyOutlines.com, Inc.

PubMed Search: VACTERL

Erdener Özer, M.D., Ph.D.
Page views in 2022: 509
Page views in 2023 to date: 486
Cite this page: Özer E. VACTERL association. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/syndromesvacterl.html. Accessed September 26th, 2023.
Definition / general
  • Refers to the co-occurrence of birth defects including Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula or Esophageal atresia, Renal or radial anomalies and Limb defects
  • Called an association rather than a syndrome because the defects are not pathogenetically related and tend to occur in a non random manner
  • Linda Quan and David Smith first described VATER association, including only Vertebral, Anal, TracheoEsophageal features and Radial dysplasia in 1972; years later, when it was found that cardiac and renal abnormalities were common in the association, the acronym was changed to VACTERL (J Med Genet 2006;43:545)
Essential features
  • Typically defined by the presence of at least three of the congenital malformations at below: (Orphanet J Rare Dis 2011;6:56)
    • Vertebral anomalies
    • Anal atresia
    • Cardiac defects
    • Tracheoesophageal fistula
    • Esophageal atresia
    • Renal or radial anomalies
    • Limb defects
  • Most cases are sporadic; however, some families have several involved members
  • The incidence is approximately 1 in 10,000 to 40,000 live born infants (Orphanet J Rare Dis 2011;6:56)
  • Seen more frequently in infants born to diabetic mothers
  • Associated with chromosomal defects such as Trisomy 18
  • VACTERL association specifically refers to the abnormalities in structures derived from the embryonic mesoderm
  • In general, the etiology of "associations" is not defined
  • No specific genetic or chromosome problem has been identified with this association, and it is most likely caused by multiple factors (Am J Med Genet 2002;110:320)
Clinical features
  • Vertebral anomalies usually consist of hypoplastic vertebra or hemivertebra (80% of patients)
  • Anal atresia or imperforate anus (55%)
  • Congenital heart disease including ventricular septal defect, atrial septal defects and tetralogy of Fallot (up to 75%)
  • Esophageal atresia with tracheoesophageal fistula (70%)
  • Renal defects including incomplete formation of one or both kidneys or urologic abnormalities such as obstruction of outflow of urine or severe reflux (50%)
  • Limb defects include a displaced or hypoplastic thumb, polydactyly, syndactyly and forearm defects such as radial aplasia (70%)
  • In addition, up to 35% of patients have a single umbilical artery
  • Features secondary to VACTERL components include ambiguous genitalia, abdominal wall defects, diaphragmatic hernia, intestinal and respiratory anomalies and oligohydramnios sequence defects
  • Based upon complete physical exam and a variety of specialized tests for its major and minor features
Prognostic factors
  • Some affected infants do not survive
  • Many babies with VACTERL are born small and have difficulty gaining weight, but they do tend to have normal development and normal intelligence
  • Later in life, vertebral abnormalities may put the child at risk for developing scoliosis
  • Renal problems can cause kidney failure early in life and may require kidney transplant
  • Many problems can be corrected surgically before any damage can occur
Differential diagnosis
Back to top
Image 01 Image 02