VATER association
Incidence
1.6 per 1000 births. Sporadic with less than 1% recurrence risk unless underlying syndromes like trisomy 18 or X-linked VACTERL with hydrocephalus are present. More than 500 individuals with VATER association have been reported in the literature.
Clinical Characteristics
VATER association is an acronym that represents Vertebral defects, Anal atresia, Tracheo-Esophageal fistula, Radial limb and Renal defects, sometimes expanded to VACTERL to denote Cardiac and Limb defects. The term "association" indicates that the children have several co-existing anomalies without the recognizable facial appearance and multiple subtle differences that characterize a syndrome. Surgical advances have greatly improved the management of patients with VATER association, which even in recent studies has an infant mortality rate of 48%. The cause of VATER association is unknown, although maternal diabetes accounts for some cases. Most complications of VATER association are direct consequences of congenital anomalies.
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
None available. Since there is no biological marker for VATER association, the diagnosis is made by documenting component anomalies. A reasonable approach to the diagnostic evaluation is to screen for all of the cognate VATER anomalies once two of them have been documented. For example, in the absence of identified syndromes, children with limb and cardiac defects should have spinal x-rays, renal sonogram, and surveillance for feeding/respiratory problems. Finding of a third cognate anomaly makes the diagnosis secure.