The VATER Association is an acronym for a group of anomalies that can occur in varying combinations in affected individuals. It was later termed the VACTERL Association with addition of cardiac anomalies and separation of renal and renal defects. It usually occurs as a sporadic event of uncertain cause, with a low risk for recurrence.
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Letter
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VATER Association
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VACTERL Association
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V
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vertebral defect
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vertebral defects
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A
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anal atresia
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anal atresia
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C
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cardiac anomalies
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T
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tracheo-esophageal fistula
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tracheo-esophageal fistula
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E
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esophageal atresia
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esophageal atresia
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R
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renal (and radial)
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renal
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L
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limb (radial)
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Vertebral defects:
(1) usually affect the thoracic or lumbar vertebra, less often the cervical or sacral vertebra
(2) may result in scoliosis
(3) hemivertebrae, dyssegmented, fused bodies, bifid, hypoplastic, agenesis
Cardiac anomalies (most common feature):
(1) any type
(2) congenital heart failure
Renal defects:
(1) agenesis or dysplasia
(2) obstructive hydronephrosis
(3) cystic kidneys
(4) ectopic kidneys
Limb defects:
(1) restricted to upper extremity, usually bilateral but may be asymmetric
(2) radial: agenesis or underdevelopment
(3) thumb: agenesis or underdevelopment
Other anomalies found in patients with the VATER/VACTERL association:
(1) single umbilical artery
(2) cleft palate
(3) polydactyly
(4) atresia of the small intestine
(5) auricular abnormalities
(6) genitourinary defects
The number of features present may vary, with an average of 3-4 anomalies found per patient. Few patients have all 7 findings in the VACTERL listing. There is no general consensus for a minimum number to give diagnostic certainty.
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Criteria from Hall
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Findings
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definite
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presence of at least 1 anomaly in the 3 geographic regions of involvement (limb, thorax, pelvis/lower abdomen)
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probable
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presence of at least 2 anomalies in 2 of the 3 geographic regions of involvement (limb, thorax, pelvis/lower abdomen)
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possible
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presence of at least 1 anomalies in 2 of the 3 geographic regions of involvement (limb, thorax, pelvis/lower abdomen)
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unlikely
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other patterns
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absent
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none of the anomalies
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after text in Hall, page 485-486
where:
• limb defects: radial defect, thumb defect
• thorax: cardiac anomalies, tracheo-esophageal fistula, esophageal atresia, cervical and/or thoracic vertebral defects
• pelvis/lower abdomen: anal atresia, renal defect, lumbar and/or sacral vertebral defects
• I split vertebral defects to cover both thoracic and pelvic/abdominal groups. One reason was that it would not be possible to include it otherwise in the Hall scheme. The other is that thoracic anomalies are more common with thoracic vertebral defects, and pelvic/lower abdominal anomalies are more common with lumbar or sacral vertebral defects.
Differential diagnosis: Need to exclude other conditions, especially Fanconi's anemia.
