Pediatric
Malformation and related entities
VACTERL association

Author: Erdener Özer, M.D., Ph.D. (see Authors page)

Revised: 18 October 2016, last major update October 2016

Copyright: (c) 2016, PathologyOutlines.com, Inc.

PubMed Search: VACTERL

Cite this page: VACTERL association. PathologyOutlines.com website. http://pathologyoutlines.com/topic/pediatricvacterl.html. Accessed March 26th, 2017.
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
Epidemiology
  • 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
Pathophysiology
  • VACTERL association specifically refers to the abnormalities in structures derived from the embryonic mesoderm
Etiology
  • 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
Diagnosis
  • 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
Treatment
  • Many problems can be corrected surgically before any damage can occur
Differential Diagnosis