What Is VATER Syndrome?

Lean About the Collection of Genetic Anomalies That Make VATER Syndrome

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VATER Syndrome (sometimes called VATER or VATERL Association) is a set of birth defects which often occur together. The initials in V.A.T.E.R. syndrome refer to five different areas in which a child may have abnormalities:

  • Vertebrae
  • Anus
  • Trachea
  • Esophagus
  • Renal (kidneys)

There may also be cardiac and limb conditions, which changes the acronym to V.A.C.T.E.R.L. A child diagnosed with one of these syndromes will not necessarily have a problem in every area, but a constellation of birth defects involving many of the areas.


How Is VATER Diagnosed?

Because VATER is not a discrete disorder or disease, there is no medical test such as a blood test that can diagnose the problem. In order to be diagnosed with VATER Syndrome, a child must have at least three of the problems described above. While the disorder is unusual (one in 10,000 to one in 40,000 children), 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. Thus, if a child has the physical symptoms of VATER and also has developmental and/or cognitive challenges, the VATER diagnosis is not appropriate.

What Causes VATER?

VATER association in not a disease or disorder in and of itself. Rather, it is referred to as a "nonrandom association of birth defects." In other words, the specific set of birth defects that may be part of VATER or VATERL are not known to be causally connected -- but they occur together too often to be a random collection of symptoms.

There is no currently known cause, but a gene defect is believed to be involved. Research suggests that some kind of damage may occur early in pregnancy; diabetic women appear to be more likely to have children with VATER.

How Is VATER Treated?

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

Treatment depends entirely upon the specific needs of the individual child. For example, some of the abnormalities in organs and limbs can be successfully treated surgically. Others may require pharmaceutical interventions, physical therapy, occupational therapy, and so forth.

As children with VATER grow up and begin to attend school, they may have some developmental or physical issues that must be addressed. For example, they may have difficulty with walking, with vigorous exercise, with fine motor coordination, etc. It is important to note, however, that since 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.

Parents of children with VATER/VACTERL may wish to request genetic counseling as they consider the possibility of having additional children. Because the disorder is genetic, their risk of having another child with a similar or related genetic disorder is higher than that of typical parents.

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