VACTERL Syndrome

What VACTERL stands for

Many children also have a single umbilical artery, genital differences or a tethered spinal cord. Growth is often slow early on.

Causes

The cause is unknown in most cases. The defects all form during the first weeks of pregnancy, when the spine, gut, heart and limb buds develop, which suggests a single early disturbance. Most cases are sporadic, meaning they happen by chance and are not inherited. Maternal diabetes is associated with a higher risk. A few genes have been linked in rare families, and some genetic syndromes cause similar features, so testing is used to rule these out:

• Fanconi anemia (VACTERL-H, with hydrocephalus), which affects the bone marrow
• CHARGE syndrome and 22q11.2 deletion
• Townes-Brocks syndrome, Feingold syndrome and trisomy 18

Diagnosis

Some features show on prenatal ultrasound: heart defects, kidney anomalies, limb defects, or a small stomach bubble with excess amniotic fluid suggesting esophageal atresia. Most diagnoses are made after birth. When a baby is found to have one VACTERL feature, doctors look for the others:

• passing a tube into the stomach to check for esophageal atresia
• examining the anus and perineum
• echocardiogram for heart defects
• kidney and bladder ultrasound
• X-rays of the spine and limbs, and spinal ultrasound or MRI for a tethered cord
• chromosome and genetic testing, and a chromosome breakage test for Fanconi anemia when there are limb or kidney findings

Treatment

There is no single treatment. Each defect is managed by its own specialist team, usually at a children's hospital.

• Esophageal atresia and fistula: surgery in the first days of life to close the fistula and join the esophagus.
• Heart defects: medicine or surgery, depending on the type.
• Kidney problems: monitoring, antibiotics to prevent urinary infections, or surgery to relieve blockages.
• Limb defects: splinting, therapy, or hand surgery such as creating a thumb.
• Vertebral defects: observation, bracing or spinal surgery if a curve worsens.

Colon and anorectal surgery in VACTERL

Babies with anal atresia often need surgery in stages. A colostomy is usually made in the first days, bringing the colon out to the belly wall so stool can drain into a bag. A few months later, the surgeon creates an anus in the correct position, usually by a posterior sagittal anorectoplasty (PSARP). Once healed, the colostomy is closed. Some children with low defects need only a single operation. Afterward, many children need a bowel management program, with diet, laxatives or daily enemas, to stay clean and avoid constipation. Read more about anorectal malformations.

Complications

• Chronic constipation or fecal soiling after anorectal repair
• Swallowing problems, reflux and narrowing of the esophagus at the join
• Recurrent urinary infections and, in some children, chronic kidney disease
• Scoliosis from abnormal vertebrae
• Breathing problems from a floppy windpipe (tracheomalacia)

Outlook

Survival and quality of life depend mainly on the severity of the congenital heart defect, kidney function and breathing. Intelligence is usually normal. Many children need repeated operations in childhood but grow into healthy adults. Lifelong follow-up of kidneys, spine and bowel function is recommended.

Chance of recurrence

Because most cases are sporadic, the chance of a future child being affected is low, usually estimated at around 1%, unless a genetic syndrome is found. A genetic counselor can give a personal estimate.

Frequently asked questions

What is VACTERL syndrome?

VACTERL syndrome is a pattern of birth defects that occur together more often than chance. It involves the vertebrae, anus, heart, trachea and esophagus, kidneys and limbs. Doctors diagnose it when a baby has at least three of these features and another syndrome has been ruled out.

Is VACTERL syndrome genetic?

Usually not. Most cases happen by chance with no family history, and the risk of it happening again in a later pregnancy is low. A few cases are linked to genetic conditions such as Fanconi anemia, which is why genetic testing is offered.

What surgery is done for the colon in VACTERL?

For anal atresia, babies often have a temporary colostomy in the first days of life. Months later, surgeons create a properly positioned anus, usually with a procedure called PSARP, then close the colostomy. Many children then follow a bowel management program to prevent constipation and soiling.

What is the difference between VACTERL and VATER?

VATER was the original name and covered vertebral, anal, tracheo-esophageal, radial limb and renal defects. Cardiac and broader limb defects were added later to make VACTERL. The terms describe the same condition and are used interchangeably.

What is the life expectancy with VACTERL syndrome?

Most children who survive infancy have a normal or near-normal life expectancy. The outlook depends mainly on how severe the heart, kidney and breathing problems are. Early surgery and long-term follow-up have greatly improved results.