VACTERL Association

The VACTERL criteria

Each letter stands for one group of defects. For an overview of each feature and its surgery, see our VACTERL syndrome page. Here is how often each appears and what doctors look for:

Diagnosis requires at least 3 of these features in most definitions. Some experts accept 2 features if one is a classic finding, such as tracheo-esophageal fistula, and other conditions have been excluded. The features vary greatly, so no two children look alike.

Other findings sometimes present

• Hydrocephalus (VACTERL-H), which raises suspicion of Fanconi anemia or X-linked forms
• Single umbilical artery
• Genital anomalies
• Tethered spinal cord
• Growth restriction before birth
• Lung segment abnormalities

Newborn screening checklist

When a baby has one VACTERL feature, doctors look for the others. A typical work-up includes:

1. Echocardiogram for heart defects
2. Spine X-rays for vertebral and rib anomalies
3. Kidney and bladder ultrasound, and later a voiding study if reflux is suspected
4. Passing a feeding tube into the stomach and a chest X-ray to check for esophageal atresia
5. Examination of the anus and perineum, and imaging to plan surgery
6. Limb examination and X-rays, especially of the thumbs and forearms
7. Spinal ultrasound or MRI for tethered cord, especially with anal or vertebral anomalies
8. Genetic testing: chromosomal microarray and, often, a chromosome breakage test for Fanconi anemia

Conditions that mimic VACTERL

VACTERL is a diagnosis of exclusion. Several genetic conditions share its features and change care and family recurrence risk:

Identifying Fanconi anemia early is particularly important, because it needs blood count monitoring and affects choices around cancer screening and bone marrow transplant.

Causes and recurrence

The cause is unknown in most children. The defects arise in the first weeks of pregnancy, when the structures involved are forming. Factors linked to a higher chance include maternal diabetes, assisted reproduction and some genetic variants in rare families.

The chance of the same pattern in a brother or sister is low, often estimated at about 1% or less, when a genetic syndrome has been ruled out. Genetic counseling is recommended.

Treatment and long-term care

In the newborn period

• Esophageal atresia and tracheo-esophageal fistula: surgical repair in the first days of life.
• Anal atresia: a temporary colostomy or an early repair, depending on the type.
• Heart defects: medicines, catheter procedures or surgery, often timed with other operations. See congenital heart defects.
• Kidney anomalies: antibiotics to prevent infection if there is reflux, and surgery for blockages.

Through childhood

• Bowel management: many children have constipation or soiling after anal repair and benefit from a structured bowel program.
• Spine: monitoring for scoliosis and tethered cord syndrome.
• Limbs: occupational therapy, splints, and thumb or forearm surgery such as pollicization (creating a thumb from the index finger).
• Feeding and swallowing: reflux, narrowing at the esophageal repair, and a floppy windpipe (tracheomalacia) are common after TE fistula repair.
• Kidneys: blood pressure, urine and kidney function checks, because some children develop chronic kidney disease.

Into adulthood

Adults with VACTERL may have ongoing issues with kidney function, back pain from vertebral anomalies, reflux, bowel control and fertility, depending on their defects. A planned transition to adult specialists helps keep follow-up on track.

Outlook

The outlook depends mainly on the severity of the heart, kidney and windpipe defects. Some babies with complex combinations do not survive infancy, but most children treated at specialist centers survive and grow up. Intelligence is usually normal, though hospital stays and surgeries can affect early development, so developmental support helps.

Frequently asked questions

What are the diagnostic criteria for VACTERL association?

A diagnosis is usually made when a child has at least 3 of the 6 core features: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula with or without esophageal atresia, renal anomalies and limb abnormalities. Other genetic syndromes with overlapping features should be ruled out first.

What is the difference between VACTERL association and VATER?

They describe the same pattern. VATER was the original term from the 1970s. It was later expanded to VACTERL to include cardiac and limb defects, which are common. VACTERL-H is used when hydrocephalus is also present.

Is VACTERL association genetic?

Usually no single genetic cause is found, and most cases occur by chance. A small number of families show inheritance, and some genetic syndromes, such as Fanconi anemia, can look like VACTERL. Genetic testing and counseling help clarify the risk for future pregnancies.

Can VACTERL association be detected before birth?

Some features, such as heart defects, kidney anomalies, vertebral changes and limb differences, can be seen on prenatal ultrasound. Esophageal and anal atresia are harder to detect. A firm diagnosis is usually made after birth, when all features can be examined.

What is the life expectancy with VACTERL association?

Most children who survive the newborn period and early surgeries live into adulthood, often with a good quality of life. Life expectancy depends on the severity of heart, kidney and lung-related problems. Long-term follow-up helps manage kidney function, spine and bowel issues.