What is VACTERL/VATER association

VACTERL/VATER association is a rare congenital disorder that affects multiple organ systems in the body. It is characterized by the presence of several birth defects that occur together. The acronym VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. The term VATER association is used when at least three of these features are present without the vertebral defects.

The specific symptoms and severity of VACTERL/VATER association can vary widely among affected individuals. Some common features include abnormalities of the spine, such as missing or misshapen vertebrae, anal atresia (imperforate anus), heart defects, abnormalities of the esophagus and trachea, kidney abnormalities, and limb defects. These anomalies can range from mild to severe and may require surgical intervention.

The exact cause of VACTERL/VATER association is unknown, but it is believed to result from a combination of genetic and environmental factors. It is not typically inherited in a predictable pattern, although there may be a slightly increased risk for siblings of affected individuals.

Management of VACTERL/VATER association involves a multidisciplinary approach, with treatment tailored to the specific needs of each individual. This may include surgical interventions, physical therapy, and ongoing medical care to address the various organ system abnormalities.