Background VACTERL Association is a group of birth defects that can present as a combination of Vertebral, Anal, Cardiac, Tracheal, Esophageal, Renal and Limb abnormalities. It is a diagnosis of exclusion requiring at least three of these features to be present. There is no true explanation for VACTERL from either a causation or embryo-pathogenesis standpoint, but risk factors include gene mutations, chromosomal anomalies and maternal diabetes. VACTERL occurs in 1 out of 10,000 to 40,000 births, though it is likely underdiagnosed due to its variability in presentation.

Case Presentation Patient is a 4-month-old male with history of VACTERL association status-post tracheoesophageal fistula ligation, esophageal atresia repair and G-Tube dependency, presenting for follow-up after 118-day NICU stay for prematurity and fetal anomaly workup. Hospital course was complicated by respiratory distress, sepsis rule out, cardiac resuscitation, pneumothorax, and hemidiaphragmatic paralysis. Patient was born at 35w6d to a refugee mother from Venezuela via spontaneous vaginal delivery. Pregnancy was complicated by polyhydramnios, abnormal prenatal ultrasound and late prenatal care. Delivery was complicated by premature prolonged rupture of membranes. Patient currently presents with global developmental delays and requires follow-up with surgery, gastroenterology, pulmonology, nephrology, cardiology, genetics, ENT and ophthalmology.

Discussion Early signs of VACTERL association included (1) multicystic left kidney seen on prenatal ultrasound, and (2) polyhydramnios and lack of gastric bubble indicating tracheoesophageal fistula (TEF) or imperforate anus. While not present in this patient, a single umbilical artery also frequently accompanies VACTERL. Since VACTERL is a diagnosis of exclusion, the differential included Fanconi anemia, CHARGE syndrome, DiGeorge syndrome and Alagille syndrome, all of which share features with VACTERL. From “VACTERL,” the patient presented with: (V) supernumerary ribs, S1 defect and rib hypoplasia; (C) patent foramen ovale, atrial septal defect and patent ductus arteriosus; (TE) TEF Type C, and (R) left multicystic kidney. As outlined in a new Pediatric Research (2020) guideline, VACTERL phenotypes fall under four subtypes—STRICT-VACTERL, VACTERL-LIKE, VACTERL-PLUS and NO-VACTERL—based on major and minor criteria. The patient was classified as STRICT-VACTERL. Treatment required careful coordination of care from the neonatology team, and despite surgical interventions, long-term care from various specialists throughout childhood will likely be necessary. Prognosis for VACTERL is generally good, though chronic health issues into adulthood are common. While early identification of anomalies through antenatal care is key for early coordination of care and birth plan, further research is needed to identify and correct modifiable causes for future prevention.