From the Guidelines
VATER syndrome requires a multidisciplinary approach to management, focusing on surgical correction of defects and long-term supportive care to improve quality of life and address potential complications, as highlighted in the context of oesophageal atresia-tracheoesophageal fistula (EA-TEF) management 1. The condition is characterized by a combination of vertebral defects, anal atresia, tracheo-esophageal fistula, and radial and renal dysplasia, with some cases also involving cardiac defects and limb abnormalities. Given the complexity and variability of VATER syndrome, a comprehensive treatment plan involving pediatricians, surgeons, cardiologists, urologists, and orthopedic specialists is essential.
- Surgical interventions are often necessary early in life to correct issues such as anal atresia or tracheo-esophageal fistulas, which can have significant implications for the patient's quality of life and morbidity, as seen in the long-term complications of EA-TEF, including gastro-oesophageal reflux disease (GERD), peptic oesophagitis, and anastomotic strictures 1.
- Long-term follow-up care is crucial, as individuals with VATER syndrome may face developmental delays, functional challenges, and increased risk of certain health issues, such as oesophageal adenocarcinoma, squamous cell carcinoma, and epidermoid carcinoma, as well as respiratory complications like abnormalities in lung function, asthma, and aspiration 1.
- The importance of a systematic approach to the care of patients with conditions like EA-TEF during adolescence and after the transition to adulthood, as emphasized by the International Network on Oesophageal Atresia (INoEA), also applies to the management of VATER syndrome, given the shared need for multidisciplinary care and the potential for similar long-term complications 1.
From the Research
Definition and Diagnosis of Vater Syndrome
- VATER syndrome, also known as VACTERL association, is a rare congenital disorder characterized by the presence of at least three of the following anomalies: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities 2.
- The diagnosis is typically made clinically, based on the presence of these characteristic anomalies, and is a diagnosis of exclusion, meaning that other similar conditions must be ruled out 2.
- The incidence of VATER syndrome is estimated to be approximately 1 in 10,000 to 1 in 40,000 live-born infants 2.
Clinical Features and Associated Anomalies
- Patients with VATER syndrome may have additional congenital anomalies beyond the core features, including genital defects, cardiovascular anomalies, and small intestinal atresias 3.
- The spectrum of congenital anomalies associated with VATER syndrome is diverse, and may include preaxial limb anomalies, diaphragmatic defects, oral clefts, bladder exstrophy, omphalocele, and neural tube defects 3, 4.
- Renal malformations are a common feature of VATER syndrome, and may be associated with other congenital anomalies, such as anorectal malformations and genital defects 5.
Management and Prognosis
- The management of patients with VATER syndrome typically involves surgical correction of the specific congenital anomalies, followed by long-term medical management of sequelae 2.
- The prognosis for patients with VATER syndrome can be relatively positive if optimal surgical correction is achievable, although some patients may continue to experience difficulties throughout life 2, 6.
- Adults with VATER syndrome may experience long-term medical and neurologic problems, including cognitive impairment, infertility, and difficulties with employment due to partial or complete incontinence 6.