Definition:
A nonrandom association of birth defects, VATER syndrome or VACTERL association, is not considered a syndrome since all the defects are linked.
Diagnosis:
Some people affected with VACTERL will not present all typical findings. The diagnosis can be suspected because of polyhydramnios in the presence of a small or absent fetal stomach, hemivertebrae or scoliosis, or limb, renal, and cardiac defects. 3D rendering may recognize the presence of a supernumerary rib (13 and 14 pairs thoracic, 6 to 7 lumbar). If the fetus is severely affected, the ultrasound diagnosis of VACTERL may be accomplished in the second trimester of pregnancy.
Treatment:
A treatment plan can be developed once the birth defects have been identified. Medical treatment or surgery may be immediately required for patients with esophageal atresia, tracheoesophageal fistula, or heart defects. In some cases, surgery can wait until the child is older. Children with arm, leg, or spine problems may need physical or occupational therapy.
Symptoms and Signs:
Each letter of the acronym stands for a symptom of the disease. V stands for vertebrae, which are abnormal, A stands for anal atresia, C is for cardiac/heart defects, T stands for tracheoesophageal fistula, E for esophageal atresia, R is for renal/kidney defects and L is for limb or arm defects.
Causes:
There is no particular or specific genetic or chromosome problem identified with VACTERL association. It can be seen with some chromosomal defects such as Trisomy 18, which is more frequently seen in babies of diabetic mothers. Multiple factors however are most likely to cause VACTERL association.
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