What does VACTERL mean in THERAPY

VACTERL (pronounced "vack-ter-ul") association is a group of birth defects that occur together more often than would be expected by chance. It includes vertebral anomalies, anorectal malformations, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal (kidney) and/or radial anomalies, and limb defects.

The symptoms of VACTERL association can vary depending on which birth defects are present. Some of the most common symptoms include:

• Vertebral anomalies: These can include spina bifida, which is a birth defect in which the spinal cord doesn't close all the way during pregnancy.
• Anorectal malformations: These are birth defects that affect the anus and rectum. They can include imperforate anus, which is a condition in which the anus is not open, and anal stenosis, which is a narrowing of the anus.
• Cardiovascular anomalies: These can include heart defects, such as ventricular septal defect (VSD), which is a hole in the wall between the ventricles of the heart.
• Tracheoesophageal fistula: This is a birth defect in which the trachea (windpipe) and esophagus (food pipe) are connected.
• Esophageal atresia: This is a birth defect in which the esophagus is not open.
• Renal (kidney) and/or radial anomalies: These can include kidney defects, such as horseshoe kidney, which is a condition in which the kidneys are fused together, and radial anomalies, which are birth defects that affect the radius bone in the forearm.
• Limb defects: These can include clubfoot, which is a birth defect in which the foot is turned inward, and syndactyly, which is a condition in which two or more fingers or toes are fused together.

The exact cause of VACTERL association is unknown, but it is thought to be caused by a combination of genetic and environmental factors. It is believed that a mutation in the gene responsible for producing a protein called sonic hedgehog (SHH) may play a role in the development of VACTERL association. SHH is a signaling protein that is involved in the formation of many different organs and tissues during pregnancy.

VACTERL association is diagnosed based on the presence of two or more of the birth defects that are associated with the condition. A doctor may suspect VACTERL association if a child has vertebral anomalies, anorectal malformations, or cardiovascular anomalies. Tests such as echocardiography (ultrasound of the heart), upper gastrointestinal (GI) series (X-ray of the esophagus and stomach), and renal ultrasound may be used to confirm the diagnosis.

Treatment for VACTERL association will depend on the specific birth defects that are present. Treatment may include surgery, medication, and physical therapy. In some cases, children with VACTERL association may need to be monitored by a team of specialists.

The prognosis for VACTERL association will depend on the severity of the birth defects that are present. Children with VACTERL association may have a variety of health problems, including developmental delays, learning disabilities, and physical disabilities. However, with early intervention and appropriate treatment, many children with VACTERL association can live full and productive lives.