VATER syndrome is a genetic condition affecting 16 out of 100,000 live births, with at least three of seven possible birth defects. These include spinal, anal, cardiovascular, tracheoesophageal, renal and/or radial anomalies, and limb defects. Most defects can be corrected surgically, and affected children often develop normally.
VATER syndrome is an acronym that describes a constellation of birth defects that affects 16 out of 100,000 live births. It is thought to be associated with a genetic mutation, but the exact gene responsible is still unknown. To be classified with VATER syndrome, children must have at least three of the following characteristics: vertebral anomalies, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal and/or radial anomalies, and limb defects. Many of the defects can be corrected surgically; children with this condition often continue to develop normally.
About 70% of children with VATER syndrome have some type of spinal defect. The defect may include a smaller than normal or half-formed vertebrae. Vertebral abnormalities aren’t life-threatening, but they create an increased risk for a type of spinal curvature called scoliosis.
Anal atresia is a birth defect in which the anus is imperforate and body waste cannot be expelled. This condition requires surgery almost immediately. Some operations may be required to connect the intestine and the anal canal correctly. More than half of all children born with VATER syndrome have anal atresia.
As many as 75% of children with VATER syndrome have congenital heart disease. Tetralogy of Fallot, atrial septal defects, and ventricular septal defects are the most commonly seen problems. Children with VATER syndrome sometimes have arterial trunk or transposition of the main arteries.
Esophageal atresia with tracheoesophageal fistula affects 70% of newborns with this syndrome. In esophageal atresia, the esophagus is not open and food cannot pass into the stomach. A tracheoesophageal fistula refers to a hole between the windpipe and esophagus. About 33% of children with tracheoesophageal fistula also have congenital heart disease.
The umbilical cord normally contains two arteries and one vein. In VATER syndrome, about 35% of babies have an umbilical cord with only one artery and one vein. This can indicate kidney or kidney problems or other urological problems. Sometimes the kidneys are incompletely formed or urine is unable to leave the body. If not corrected, kidney failure can manifest itself at an early age.
Radial aplasia, in which the forearm radius bone is missing, fused fingers, extra fingers, or displaced thumb occurs in as many as 70% of all births with VATER syndrome. If only one limb is affected, there’s a good chance the kidney on the same side of the body also has a defect. If both limbs have a defect, both kidneys can be affected.
Most defects can be corrected with surgery soon after birth or during the first few years of life. These children are often born small and have difficulty gaining weight; once the congenital abnormalities are corrected, however, they grow up to live normal, productive lives. Although researchers believe this condition has a genetic connection, families rarely have more than one child with this birth defect.
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