VACTERL Association and Birth Defects

The acronym VACTERL refers to a group of birth defects that occur together; these abnormalities are related and occur by chance, affecting several different parts of the body. VACTERL association may cause many symptoms, so it is unknown how many children are affected by it. The condition may occur with some chromosome defects such as Trisomy 18 (Edwards syndrome), or in children of mothers with diabetes, but its exact cause is not known; it is likely caused by a combination of environmental and genetic factors. VACTERL Association is extremely rare, impacting just 1 in 40,000 births.

Symptoms

Each letter in VACTERL represents the first letter of its common symptoms. Not all children affected by VACTERL association have all of these abnormalities.

• V stands for vertebrae (bones of the spine), which are abnormal
• A stands for anal atresia or imperforate anus, meaning an anus that does not open to the outside of the body
• C stands for cardiac (heart) defects, usually an abnormal hole between parts of the heart (ventricular septal defect or atrial septal defect)
• T stands for tracheoesophageal fistula, meaning an abnormal connection between the trachea (windpipe) and the esophagus (the food tube to the stomach)
• E stands for esophageal atresia, meaning the esophagus does not connect to the stomach
• R stands for renal (kidney) defects
• L stands for limb (arm) defects such as absent or displaced thumbs, extra fingers (polydactyly), fused fingers (syndactyly), or a missing bone in the arms or legs

Some infants born with VACTERL association have only one umbilical artery (instead of the normal two). Many infants are born small and have difficulty growing and gaining weight.

Diagnosis

Diagnosis of VACTERL association is based on the infant's birth defects. No one particular test is required to confirm the diagnosis. Some problems, such as an imperforate anus or extra fingers, will be discovered when the newborn is examined after birth. X-rays of the spine, arms, and legs can detect abnormal bones. An echocardiogram (heart ultrasound) can detect heart defects. Other tests can be done to detect the presence of esophageal atresia and tracheoesophageal fistula or kidney defects.

Treatment

Each situation with VACTERL association is completely unique and the potential for treatment and prognosis is dependent upon the individual's situation. The condition is treated on an individual basis; a universal treatment plan for VACTERL association has not be created. Some abnormalities are so severe the treatment will not be successful and the affected infant may not survive. In other cases, surgery may be able to correct defects, allowing the child to survive and live a relatively normal life.

Once the birth defects have been identified, a treatment plan can be developed for the infant. Some problems, such as esophageal atresia, tracheoesophageal fistula, or heart defects, may need medical treatment or surgery right away. Sometimes surgery to repair a problem can wait until the child is older. Often, many specialists are involved in the care of a child with VACTERL association. Children with arm, leg, or spine problems may need physical or occupational therapy.