VACTERL association: Symptoms
VACTERL association refers to the occurrence of vertebral anomalies, anal atresia, cardiac defects, Tracheoesophageal fistula and / or Esophageal atresia, Renal & Radial anomalies, and Limb defects. Although the exact cause is unknown, it is known that trisomy 18 occurs more frequently in patients with diabetes. It appears to be a multifactorial cause.
Vertebral defects - Vertebral anomalies usually appear as hypoplastic vertebrae or hemivertebra. Patients with 80 percent of VACTERL association have a vertebral anomaly. It does not cause major problems at birth, but it can cause scoliosis, curvature in the growth process.
Anal defects- Imperforate anus appears in 55 percent of patients with VACTERL association. Usually anomalies are found at birth, and fast surgery is required. Occasionally, multiple operations are required for complete reconstruction of the intestine and anal canal.
Cardiac defects - Congenital heart disease is associated with 75 percent of patients with VACTERL association. Ventricular septal defect, atrial septal defect, and tetralogy of Fallot are the most common diseases.
Tracheo-esophageal fistula defects- Esophageal atresia with tracheo-esophageal fistula appears in 70 percent of patients with VACTERL association. Congenital heart disease is present in 15 to 33 percent of these patients. But most are heart deformities that do not require surgery.
Kidney defects-Kidney defects occur in 50% of patients with VACTERL association, and 35% are accompanied by a single umbilical artery, which is mainly associated with additional kidney problems. The kidney problem in the VACTERL association is so serious that it can cause obstruction, reflux, etc. of the urine outflow, which can lead to kidney failure requiring kidney transplant.
Limb defects - Limb defects appear in patients with VACTERL association of 70 percent, appearing in the form of hypoplastic thumb, polydactylyl, syndactylyl, and radial dysplasia. If limb defect is present on both sides, kidney defect also appears on both sides. If limb defect appears on one side, kidney defect also appears on the same side.
Vertebral defects - Vertebral anomalies usually appear as hypoplastic vertebrae or hemivertebra. Patients with 80 percent of VACTERL association have a vertebral anomaly. It does not cause major problems at birth, but it can cause scoliosis, curvature in the growth process.
Anal defects- Imperforate anus appears in 55 percent of patients with VACTERL association. Usually anomalies are found at birth, and fast surgery is required. Occasionally, multiple operations are required for complete reconstruction of the intestine and anal canal.
Cardiac defects - Congenital heart disease is associated with 75 percent of patients with VACTERL association. Ventricular septal defect, atrial septal defect, and tetralogy of Fallot are the most common diseases.
Tracheo-esophageal fistula defects- Esophageal atresia with tracheo-esophageal fistula appears in 70 percent of patients with VACTERL association. Congenital heart disease is present in 15 to 33 percent of these patients. But most are heart deformities that do not require surgery.
Kidney defects-Kidney defects occur in 50% of patients with VACTERL association, and 35% are accompanied by a single umbilical artery, which is mainly associated with additional kidney problems. The kidney problem in the VACTERL association is so serious that it can cause obstruction, reflux, etc. of the urine outflow, which can lead to kidney failure requiring kidney transplant.
Limb defects - Limb defects appear in patients with VACTERL association of 70 percent, appearing in the form of hypoplastic thumb, polydactylyl, syndactylyl, and radial dysplasia. If limb defect is present on both sides, kidney defect also appears on both sides. If limb defect appears on one side, kidney defect also appears on the same side.
