An Overview of VATER Syndrome

Understanding this unusual set of birth defects

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VATER syndrome is a set of birth defects that often occur together. It is classified as a "nonrandom association," rather than a disease. "VATER" is an acronym that refers to five different areas in which a child may have abnormalities: vertebrae, anus, trachea, esophagus, renal (kidneys). When there are also cardiac and limb conditions present, the condition is called VACTERL association. A child diagnosed with either issue will not necessarily have all of these problems, but he or she may have a constellation of birth defects involving many of these areas.

Causes

The specific set of birth defects that may be part of VATER or VACTERL are not known to be causally connected. Instead, they occur together too often to be just a random collection of symptoms.

While there is currently no known cause for this, a genetic defect is believed to be involved, and research suggests that the disruption to fetal development that causes VATER occurs early in pregnancy. Also, women with diabetes appear to be more likely to have children with VATER.

If you're a parent of a child with VATER, you may wish to request genetic counseling if you're considering having more children. The syndrome is genetic, so the risk of having another child with a similar or related genetic disorder is higher than for parents whose children do not have VATER.

Symptoms

Since VATER syndrome involves a collection of several different abnormalities, signs and symptoms can appear in a number of ways and be different from person to person. The most common symptoms include:

Vertebral anomalies: Curvature of the spine, malformed vertebrae and/or ribs, absence of a tailbone. Many of these issues are spotted by parents and can be confirmed by a physical examination and X-rays, ultrasound, and/or magnetic resonance imaging (MRI).

Anal atresia: When the anal opening is blocked by a thin membrane, preventing bowel movements. A physical examination can identify this issue.

Tracheo-esophageal fistula: When the trachea and esophagus are connected, which can cause food to be inhaled into the lungs, potentially causing respiratory infections. Children with a tracheo-esophageal fistula may also have trouble swallowing and/or breathing, and a doctor's examination can determine if that is the problem.

Renal abnormalities: Underdeveloped or malformation of kidneys, backflow of urine, misplaced urethral opening. Frequent urinary tract infections (UTIs) are a common sign of renal abnormalities, and a renal ultrasound may be ordered to determine what the specific problem is.

Diagnosis

VATER syndrome is not a discrete disorder or disease, so there is no one medical test that can diagnose or rule it out. A diagnosis is made based on a doctor's physical exam and the results of specialized tests done for associated areas, such as X-rays to identify vertebral anomalies and a renal ultrasound to detect kidney issues.

In order to be diagnosed with VATER, a child must have abnormalities in at least three of the areas associated with the disorder.

VATER is unusual (affecting one in 10,000 to 40,000 children) and the symptoms can differ greatly from one child to another. An important element of VATER is that it does not seem to impact intellectual development, so if a child has the physical symptoms of VATER along with brain developmental and/or cognitive challenges, the VATER diagnosis is not appropriate and alternative diagnoses will be considered.

Treatment

While some children with VATER or VACTERL may have such severe problems that cause them to fail to thrive as infants, many do grow up and live full lives.

The treatment method for VATER depends entirely on the specific needs of the individual child and varies widely from case to case. For example, some of the abnormalities in organs and limbs can be successfully treated with surgery, while other issues may require pharmaceutical interventions, physical therapy, and/or occupational therapy.

As children with VATER grow up and begin to attend school, they may have some developmental or physical issues that need to be addressed, such as having difficulty walking, vigorously exercising, or performing fine motor functions.

It's important to remember that VATER is not a disorder of the brain. Most children with VATER should be able to manage the intellectual and cognitive demands of school without too much difficulty.

A Word From Verywell

In addition to asking your doctor questions about VATER syndrome, the National Center for Biotechnology Information and the National Institutes of Health's Genetics Home Reference provide resources that may be helpful to you.

A number of children's hospitals throughout the United States, such as Cincinnati Children's, work on treatments for VATER, and some are specialists in a certain aspect of this very complicated syndrome. 

If you have questions or concerns about your child's VATER syndrome diagnosis and/or treatment options, make an appointment with your pediatrician to clarify any misconceptions and determine the best course of action for your individual child's needs.

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Article Sources
  • Solomon, B. D. (2011). VACTERL/VATER Association. Orphanet Journal of Rare Diseases, 6(1), 56. doi:10.1186/1750-1172-6-56

  • National Institute of Health U.S. National Library of Medicine. VACTERL association. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/vacterl-association

  • NORD (National Organization for Rare Disorders). VACTERL Association. https://rarediseases.org/rare-diseases/vacterl-association/.