This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.
[5] Vertebral anomalies, or defects of the spinal column, usually consist of small (hypoplastic) vertebrae or hemivertebra where only one half of the bone is formed.
Later in life these spinal column abnormalities may put the child at risk for developing scoliosis, or curvature of the spine.
[5] Approximately 40-80 percent of patients with VACTERL association have been reported to have congenital heart disease.
[citation needed] Kidney defects are seen in approximately 50 percent of patients with VACTERL association.
[citation needed] Limb defects occur in up to 70 percent of babies with VACTERL association and include a displaced or hypoplastic thumb, extra digits (polydactyly), fusion of digits (syndactyly) and forearm defects such as radial aplasia.
[citation needed] Patients with abnormal cardiac and kidney function may be more at risk for hemolytic uremic syndrome.
[citation needed] The acronym VATER association was first described by Linda Quan, an emergency room physician, and David Smith, a man who was considered the father of dysmorphology in 1972, to define a non-random co-occurrence of the listed defects.
Years later, research revealed that cardiac and renal abnormalities were common in the association, and the acronym was changed to VACTERL.
The differentiation of the acronyms VACTERL and VATER is due to the variation in defects determined at or prior to birth.