VACTERL association !

A group of birth defects that often occur together: spine, anus, heart, windpipe-oesophagus, kidney and limb problems. Three or more make the diagnosis.

Updated 2026-11-01

Structures involved

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What it is

A non-random association of congenital anomalies: Vertebral defects, Anal atresia, Cardiac defects, Tracheo-Esophageal fistula with oesophageal atresia, Renal anomalies and Limb (mainly radial) anomalies. The diagnosis is usually made when at least three of these features are present and other syndromes have been excluded.

Who gets it

About 1 in 10,000 to 40,000 newborns. Most cases are sporadic. Higher frequency in infants of mothers with pre-existing diabetes. In Colombia and Latin America, congenital anomaly surveillance includes it within multiple malformation reporting.

Causes

Multifactorial and heterogeneous: likely a combination of genetic and environmental factors
Disturbance of mesoderm development during the first weeks of embryogenesis
Rare genetic contributors reported (for example in Sonic hedgehog pathway genes)
Some cases overlap with recognised syndromes (Fanconi anaemia, 22q11 deletion, CHARGE, trisomy 18)

Risk factors

Maternal pre-gestational diabetes
Assisted reproductive technology and multiple pregnancy (reported associations)
Exposure to certain teratogens early in pregnancy (reported for some drugs and hormones)

Pathophysiology

All components derive from structures forming around 3 to 8 weeks of gestation, when the mesoderm patterns the vertebrae, heart, limb buds and urogenital tract, and the foregut divides into trachea and oesophagus. An early insult or signalling defect (such as in Sonic hedgehog) disturbs several of these developing fields at once, so defects cluster together without a single unifying genetic cause in most children.

Classification

V – vertebral: hemivertebrae, butterfly or fused vertebrae, rib anomalies, tethered cord
A – anal atresia or other anorectal malformation
C – cardiac: ventricular septal defect, atrial septal defect, tetralogy of Fallot, patent ductus arteriosus
TE – tracheo-oesophageal fistula with or without oesophageal atresia
R – renal: agenesis, dysplasia, horseshoe kidney, hydronephrosis, vesicoureteral reflux
L – limb: radial ray defects (absent or hypoplastic thumb or radius), polydactyly

Symptoms and signs

Newborn with excess frothy saliva, choking or coughing with first feed and inability to pass a nasogastric tube (oesophageal atresia)
No visible anal opening or meconium passing through the perineum or urine (anorectal malformation)
Heart murmur, cyanosis or signs of heart failure
Abnormal thumbs or shortened, bowed forearm
Spinal curvature or abnormal vertebrae seen on X-ray; scoliosis later
Urinary tract infections, poor urine output or abdominal mass from kidney anomalies
Polyhydramnios and growth restriction may be seen in pregnancy

Diagnosis

Clinical: Any newborn with one VACTERL feature should be examined systematically for all the others; at least three features make the diagnosis after excluding other syndromes. Check anal patency, pass a nasogastric tube, examine limbs and listen to the heart.
Tests: Kidney function and urinalysis; karyotype or chromosomal microarray; chromosome breakage test when radial or thumb defects suggest Fanconi anaemia; testing for 22q11 deletion when indicated.
Imaging: Chest and abdominal X-ray (tube coiled in a blind oesophageal pouch; gas in the stomach implies a distal fistula), echocardiography, renal and pelvic ultrasound, spine X-ray and spinal ultrasound or MRI for tethered cord, and limb X-rays.

Differential diagnosis

Fanconi anaemia (radial defects with bone marrow failure)
CHARGE syndrome
22q11.2 deletion (DiGeorge) syndrome
Trisomy 18
Holt–Oram and Townes–Brocks syndromes
Caudal regression syndrome (maternal diabetes)

Goal of treatment

Stabilise the newborn, correct life-threatening defects first (airway, oesophagus, anus, heart) and then provide staged repair and long-term multidisciplinary follow-up.

Treatment

Acute: Initial stabilisation: nil by mouth, upright positioning and continuous suction of the upper oesophageal pouch, intravenous fluids, and careful respiratory support.
Surgical: Surgical repair of oesophageal atresia and tracheo-oesophageal fistula.
Surgical: Surgery for anorectal malformation (colostomy and/or anorectoplasty) and repair of significant heart defects.
Surgical: Orthopaedic and hand surgery for radial and thumb defects (such as centralisation or pollicisation) and for progressive spinal deformity.
Rehabilitation: Rehabilitation: bowel management programmes, physiotherapy and occupational therapy.
Follow-up: Long-term monitoring of kidney function, urinary infections, growth, nutrition, spine and development.

Complications

Anastomotic leak or stricture, gastro-oesophageal reflux and tracheomalacia after oesophageal repair
Faecal incontinence or constipation after anorectal repair
Chronic kidney disease and recurrent urinary infections
Progressive scoliosis and tethered cord
Reduced hand function from radial and thumb defects
Heart failure or residual heart defects

Prognosis

Depends mainly on the severity of the heart and kidney defects. With modern surgery most children survive; intelligence is usually normal, but many need multiple operations and long-term follow-up.

Test yourself

Think of the answer, then tap the question to see it.

What does the acronym VACTERL stand for?

Vertebral, Anal atresia, Cardiac, Tracheo-Esophageal fistula, Renal and Limb anomalies.

How many features are usually required for the diagnosis?

At least three, after excluding other syndromes.

What is the typical limb defect?

Radial ray anomalies: absent or hypoplastic thumb or radius.

Which syndrome must be ruled out in a child with radial defects?

Fanconi anaemia, with a chromosome breakage test, because of the risk of bone marrow failure.

What is the first nursing step in a newborn with suspected oesophageal atresia?

Nil by mouth, head-up positioning and continuous suction of the upper pouch to prevent aspiration.

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Educational information, not medical advice. For any symptom, see a health professional.

Sources: VACTERL association (MedlinePlus Genetics (U.S. National Library of Medicine), 2024).

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Representative model, for educational purposes only.

L5 vertebra highlighted on the Durgical 3D model