Definition
A non random association of congenital anomalies, diagnosed with at least three of vertebral, anal, cardiac, tracheo oesophageal, renal and limb defects.
Aetiology
- Mostly sporadic, with no single cause
- Maternal diabetes is a recognised risk factor
- About 1 in 10,000 to 40,000 births
Clinical Features
- Vertebral anomalies in 60 to 80%, with hemivertebrae and segmentation defects
- Anal atresia in 55 to 90%
- Cardiac defects in 40 to 80%
- Tracheo oesophageal fistula in 50 to 80%
- Renal anomalies in 50 to 80%
- Limb anomalies in 40 to 50%, mainly radial ray deficiency and thumb hypoplasia
- Single umbilical artery and growth deficiency in some
Investigations
- Spine radiographs and MRI for congenital scoliosis and tethered cord
- Echocardiogram and renal ultrasound
- Chromosome breakage test to exclude Fanconi anaemia
- Chromosomal microarray
Differential Diagnosis
- Fanconi anaemia
- Holt-Oram syndrome
- TAR syndrome
- CHARGE syndrome
- Townes-Brocks syndrome
Management
- Neonatal surgery. Airway, cardiac and anorectal anomalies take priority
- Spinal surveillance. Serial radiographs for progression, see congenital scoliosis
- Hand reconstruction. Centralisation and pollicisation for radial deficiency, see radial club hand
Complications
- Progressive congenital scoliosis from unbalanced hemivertebrae
- Neurological deficit from an untreated tethered cord
- Recurrent radial deviation after centralisation
Prognosis
- Normal intellect in most
- Early mortality relates to cardiac and airway lesions
References
- Solomon BD. VACTERL/VATER Association. Orphanet J Rare Dis. 2011, 6, 56. PubMed
- Solomon BD, Baker LA, Bear KA, Cunningham BK, Giampietro PF, Hadigan C, Hadley DW, Harrison S, Levitt MA, Niforatos N, Paul SM, Raggio C, Reutter H, Warren-Mora N. An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association. J Pediatr. 2014, 164(3), 451-7.e1. PubMed
Reviewed by Professor Phong Tran, Head of Orthopaedic Surgery, Western Health. Last updated 19 October 2026.