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.


VATER Association

VACTERL Association


vertebral defect

vertebral defects


anal atresia

anal atresia



cardiac anomalies


tracheo-esophageal fistula

tracheo-esophageal fistula


esophageal atresia

esophageal atresia


renal (and radial)




limb (radial)


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.


Criteria from Hall



presence of at least 1 anomaly in the 3 geographic regions of involvement (limb, thorax, pelvis/lower abdomen)


presence of at least 2 anomalies in 2 of the 3 geographic regions of involvement (limb, thorax, pelvis/lower abdomen)


presence of at least 1 anomalies in 2 of the 3 geographic regions of involvement (limb, thorax, pelvis/lower abdomen)


other patterns


none of the anomalies

after text in Hall, page 485-486



• 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.

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