VACTERL association is a non-random cluster of congenital anomalies that occur together in newborns. The exact cause is unknown, and most cases are sporadic rather than inherited. The diagnosis is clinical and is made when at least three of the characteristic features are present, after excluding other genetic syndromes.
VACTERL is an acronym that represents the main anomalies involved:
• V – Vertebral defects: such as hemivertebrae, vertebral hypoplasia, scoliosis, or spina bifida
• A – Anal atresia: absence or narrowing of the anal opening
• C – Cardiac defects: commonly ventricular septal defect, atrial septal defect, tetralogy of Fallot, or patent ductus arteriosus
• T/E – Tracheo-esophageal fistula with or without esophageal atresia: abnormal connection between the trachea and esophagus causing feeding and respiratory problems
• R – Renal anomalies: renal agenesis, dysplasia, ectopic kidneys, or vesicoureteral reflux
• L – Limb abnormalities: especially radial ray defects, thumb anomalies, or limb hypoplasia
Management is individualized and focuses on surgical correction of life-threatening malformations and long-term multidisciplinary care.
• Solomon BD.
VACTERL/VATER Association.
Orphanet Journal of Rare Diseases, 2011.
• Pediatrics in Review.
VACTERL Association: Clinical Features and Diagnosis.
American Academy of Pediatrics.
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