Vacterl association

VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

Signs and Symptoms

Individuals with VACTERL association typically have at least three of the characteristic features. However, the specific symptoms and severity can vary greatly from one person to another.

Vertebral defects

Vertebral anomalies are common and can include vertebral fusion, hemivertebrae (half-formed vertebrae), and butterfly vertebrae (vertebrae that are fused on one side).

Anal atresia

Anal atresia is a condition in which the opening to the anus is missing or blocked. This can cause problems with the elimination of waste from the body.

Cardiac defects

Cardiac (heart) defects are common in individuals with VACTERL association. These can include ventricular septal defect (a hole in the wall separating the two lower chambers of the heart), atrial septal defect (a hole in the wall separating the two upper chambers of the heart), and tetralogy of Fallot (a combination of four heart defects).

Tracheo-esophageal fistula

A tracheo-esophageal fistula is a connection between the esophagus and the trachea. This can cause problems with swallowing and breathing.

Renal anomalies

Renal (kidney) anomalies can include renal agenesis (absence of one or both kidneys), renal dysplasia (malformed kidneys), and hydronephrosis (swelling of the kidneys).

Limb abnormalities

Limb abnormalities can include radial aplasia (absence of the radius bone in the forearm), polydactyly (extra fingers or toes), and syndactyly (fused fingers or toes).

Causes

The exact cause of VACTERL association is unknown. It is thought to be multifactorial, meaning that multiple genetic and environmental factors likely contribute to its development.

Diagnosis

Diagnosis of VACTERL association is based on the presence of at least three of the characteristic features. Genetic testing may be used to rule out other conditions with similar features.

Treatment

Treatment of VACTERL association is symptomatic and supportive, and may include surgery to correct birth defects, physical therapy, and ongoing medical care.

See also

• Birth defect
• Congenital disorder
• Genetic disorder

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