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VATER association


Monday 17 May 2004

VATER is an acronym for vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial dysplasia. Cases are isolated (no familial agregation).

Nonrandom association of following anomalies: V (vertebral anomalies), A (anal atresia), C (cardiovascular anomalies), T (tracheoesophageal fistula), E (esophageal atresia), R (renal anomalies), L (preaxial limb anomalies). Diagnosis made if 3/7 defects are present


- Seen more frequently in infants of diabetic mothers
- Estimated frequency 1.6 cases/10,000 live births


- failure to thrive
- prenatal growth deficiency
- postnatal growth deficiency

- large fontanels
- preauricular tag

- cardiovascular anomalies

- airways anomalies

  • choanal atresia
  • laryngeal stenosis
  • tracheal agenesis
  • ectopic bronchus
  • pulmonary agenesis

- thoracic anomalies

  • costal anomalies (rib anomalies)
  • sternal anomalies

- digestive anomalies

  • esophageal atresia
  • tracheoesophageal fistula
  • esophageal atresia
  • duodenal atresia
  • anorectal agenesia
  • anal atresia (imperforate anus) +/- perineal fistula

- fetal urogenital anomalies

- fetal vertebral anomalies

  • hemivertebrae
  • small cleft in vertebrae
  • scoliosis
  • costal anomalies

- fetal limb anomalies

- fetal neurological anomalies

- single umbilical artery


- autosomal recessive VACTERL-hydrocephaly syndrome (David-O’Callaghan syndrome) (MIM.276950) (PTEN mutations)
- X-linked recessive VACTERL-hydrocephaly syndrome (Hunter-MacMurray syndrome) (MIM.314390)


- unknown
- anomalies in the sonic hedgehog signaling pathway (SHH) (MIM.600725) ?
- PTEN mutations in autosomal recessive VACTERL-hydrocephaly syndrome (VACTERL-H syndrome) (David-O’Callaghan syndrome) (MIM.276950)


- Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R, Mutchinick OM, Borman B, Cocchi G, Czeizel AE, Goujard J, Irgens LM, Lancaster PA, Martinez-Frias ML, Merlob P, Ruusinen A, Stoll C, Sumiyoshi Y. The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet. 1997 Jul 11;71(1):8-15. PMID: 9215761