What is VATER (Vertebral defects, Anal atresia, Tracheo-Esophageal fistula, Radial and renal dysplasia) syndrome?

From the Guidelines

VATER syndrome, also known as VACTERL association when cardiac defects and limb abnormalities are present, is a congenital disorder that requires prompt and individualized surgical intervention and supportive care to address its complex birth defects, with management and prognosis varying widely depending on the severity and combination of defects present. The condition is characterized by a group of birth defects that often occur together, including Vertebral defects, Anal atresia, Tracheo-Esophageal fistula with esophageal atresia, and Radial and Renal dysplasia, with some cases also involving Cardiac defects and Limb abnormalities 1. Some key points to consider in the management of VATER syndrome include:

• The need for a multidisciplinary team of healthcare professionals, including pediatric surgeons, urologists, cardiologists, orthopedic specialists, and others, to address the various defects and complications associated with the condition.
• The importance of early surgical intervention to correct life-threatening issues such as anal atresia or tracheo-esophageal fistula.
• The variability in prognosis, which depends on the severity and combination of defects present, as well as the individual child's response to treatment.
• The potential for long-term health challenges related to the specific defects, highlighting the need for ongoing follow-up care and support. It is also worth noting that while some studies have suggested a possible link between the use of TNF antagonists during pregnancy and an increased risk of congenital anomalies, including those associated with VATER syndrome, the evidence is not yet conclusive, and more research is needed to fully understand this potential association 1.

From the Research

Definition and Diagnosis of VATER Syndrome

• VATER syndrome, also known as VACTERL association, is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities 2.
• The incidence is estimated at approximately 1 in 10,000 to 1 in 40,000 live-born infants 2.
• The condition is ascertained clinically by the presence of the above-mentioned malformations, and there should be no clinical or laboratory-based evidence for the presence of similar conditions 2.

Clinical Characteristics and Management

• Patients with VACTERL association may have other congenital anomalies in addition to the core component features 2.
• The management of patients with VACTERL/VATER association typically centers around surgical correction of the specific congenital anomalies in the immediate postnatal period, followed by long-term medical management of sequelae of the congenital malformations 2.
• Upper limb involvement in VACTERL association is a specific feature of the radial axis that occurs in monolateral form in approximately 75% of cases and, when bilateral, always occurs in a nonsymmetrical fashion 3.
• Patients with VACTERL association do not tend to have neurocognitive impairment 2.

Outcomes and Prognosis

• If optimal surgical correction is achievable, the prognosis can be relatively positive, though some patients will continue to be affected by their congenital malformations throughout life 2.
• Pediatric patients with VACTERL association can be safely transplanted, but careful patient selection with vigilance and intervention for pre- and post-transplant urologic complications is essential 4.
• The overall graft survival rate for kidney transplants in pediatric patients with VACTERL association was 78% in one study 4.

Genetic Factors and Phenotype

• The underlying genetic factors of the VATER/VACTERL association are not yet fully understood, but several genes have been linked to the condition, including FGF8, FOXF1, HOXD13, LPP, TRAP1, and ZIC3 5.
• The "Renal" phenotype is a common feature of VATER/VACTERL association, and the elucidation of the genetic causes of the condition will ultimately provide insights into the genetic causes of the complete spectrum of congenital renal anomalies per se 5.
• Esophageal atresia with or without tracheoesophageal fistula is a major component of the VATER/VACTERL association, but it is more likely to be an isolated defect or part of a multiple malformation syndrome in a pattern other than VACTERL 6.