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. It’s something that’s good to be aware of.
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. Every little thing plays a role in development and health, you need to keep yourself as healthy as possible.
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.
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.
While some children with VATER 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.