When cardiac (heart) and limb defects are involved, the condition is referred to as VACTERL association.
Symptoms
Since VATER syndrome involves a collection of several different congenital malformations, the signs and symptoms can vary from person to person. The most common symptoms include:
Vertebral anomalies: An abnormal curvature of the spine, malformed vertebrae or ribs, or absence of a tailbone are seen in 60% to 80% of children with VATER syndrome. Many of these defects are spotted by parents and confirmed by a physical exam and imaging tests.Anal atresia: Anal atresia occur when the anus is blocked by a thin membrane, preventing bowel movements. It occurs in 55% to 90% of children with VATER syndrome.Tracheoesophageal fistula (TEF): The abnormal connection of the trachea (windpipe) and esophagus (feeding tube) can cause a plethora of health complications, including breathing problems, trouble swallowing, and respiratory infections. Anywhere from 50% to 80% of children with VATER syndrome have TEF.Renal abnormalities: Underdeveloped or malformed kidneys, a displaced urethral opening, and a backflow of urine are common in children with VATER-associated renal defects. Around 50% to 80% of children with VATER syndrome will experience some form of renal or urinary tract malformation.
VATER can cause severe disability but is not associated with brain defects or intellectual disability. As such, children who grow to adulthood will typically have normal intelligence and can live independently.
Causes
It is unclear how the specific birth defects associated with VATER or VACTERL are connected, although they occur together too frequently to be considered random. Scientists believe that a genetic defect is involved which appears to disrupt fetal development very early in the pregnancy. It is an extremely rare condition, affecting only around one in 10,000 to 40,000 children. For reasons unknown, women with diabetes appear to be more likely to have children with VATER or VACTERL than those without.
Diagnosis
VATER syndrome does not involve a known disease process, so there is not one medical test that can definitively diagnose it or rule it out. Currently, there are no genetic tests that can either predict or diagnose VATER or VACTERL syndrome. A diagnosis is made based on a physical exam and the results of specialized organ-specific tests (such as X-rays to identify vertebral anomalies or renal ultrasound to detect kidney malformations). In some cases, a diagnosis can be made while the child is still in the womb using an imaging tool called an obstetric sonogram. Because VATER syndrome does not impact intellectual function, a child with significant cognitive challenges would not be diagnosed with the syndrome. Instead, other conditions would be explored in which intellectual disabilities are characteristic features.
Treatment
The treatment of VATER syndrome varies from one person to the next. While some will continue to have serious medical concerns throughout their lives, others will become healthy, happy adults with few, if any, medical concerns. The treatment method for VATER depends entirely on the specific needs of the diagnosed individual. For example, some of the abnormalities in organs and limbs can be successfully treated with surgery, while other issues may require medications, physical therapy, or occupational therapy. As children with VATER grow up and begin to attend school, they may have some physical issues that need to be addressed, such as having difficulty walking, exercising, or performing fine motor functions.
A Word From Verywell
In addition to asking your doctor about VATER syndrome, you can find specialists through the National Center for Biotechnology Information or specialist pediatric hospitals like Cincinnati Children’s.
