Abstract
VACTERL association is a congenital syndrome involving malformations in several organ systems, such as the vertebrae, anus and rectum, heart, trachea and esophagus, kidneys and extremities, requiring at least three malformations for diagnosis. Malformations vary in severity and clinical presentation, with scoliosis, anal atresia, cardiac defects, and renal and limb malformations being common features. Vertebral malformations include costovertebral defects and abnormal spinal curvatures, while anorectal malformations range from relatively simple fistulas to complex malformations. The most common heart defects are those related to the ventricular septum, and tracheoesophageal fistula presents with symptoms such as hydramnios and breathing difficulties. Renal anomalies encompass various pathologies such as vesicoureteral reflux and renal agenesis, and limb malformations include thumb aplasia/hypoplasia, polydactyly, and bone anomalies. Additional anomalies, such as ambiguous genitalia and single umbilical artery have been reported extending the complexity of VACTERL syndrome. Prenatal diagnosis is challenging but not impossible, and ultrasound can be used to identify distinguishing features. Management involves surgical interventions to correct life-threatening malformations, followed by non-urgent corrections, and prognoses vary with patients potentially facing medical challenges throughout life. Long-term monitoring and multidisciplinary care are essential to address late medical complications and improve the prognoses of patients with VACTERL.
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Copyright (c) 2024 Katherine Durán Chavarría, Elizabeth Cramer Jenkins, Daniela Martínez Matarrita