VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these characteristic features. Affected individuals may have additional abnormalities that are not among the characteristic features of VACTERL association.

Defects in the bones of the spine (vertebrae) are present in 60 to 80 percent of people with VACTERL association. These defects may include misshapen vertebrae, fused vertebrae, and missing or extra vertebrae. In some people, spinal problems require surgery or cause health problems, such as back pain of varying severity, throughout life. Sixty to 90 percent of individuals with VACTERL association have narrowing or blockage of the anus (anal atresia). Anal atresia may be accompanied by abnormalities of the genitalia and urinary tract (genitourinary anomalies). Heart (cardiac) defects occur in 40 to 80 percent of individuals with VACTERL association. Cardiac defects can range in severity from a life-threatening problem to a subtle defect that does not cause health problems. Fifty to 80 percent of people with VACTERL association have a tracheo-esophageal fistula, which is an abnormal connection (fistula) between the esophagus and the windpipe (trachea). Tracheo-esophageal fistula can cause problems with breathing and feeding early in life and typically requires surgical correction in infancy. Kidney (renal) anomalies occur in 50 to 80 percent of individuals with VACTERL association. Affected individuals may be missing one or both kidneys or have abnormally developed or misshapen kidneys, which can affect kidney function. Limb abnormalities are seen in 40 to 50 percent of people with VACTERL association. These abnormalities most commonly include poorly developed or missing thumbs or underdeveloped forearms and hands.

Some of the features of VACTERL association can be subtle and are not identified until late in childhood or adulthood, making diagnosis of this condition difficult.

Most cases of VACTERL association are sporadic, which means they occur in people with no history of the condition in their family. Rarely, families have multiple people affected with VACTERL association. A few affected individuals have family members with one or two features, but not enough signs to be diagnosed with the condition. In these families, the features of VACTERL association often do not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition and how severe the condition will be in an individual.

There is no available objective laboratory test for VACTERL association. The diagnosis is based on having at least three of the following features (which make up the acronym VACTERL):

• (V) Vertebral defects, commonly accompanied by rib anomalies;
• (A) imperforate Anus or Anal atresia;
• (C) Cardiac (heart) defects;
• (T) Tracheo-Esophageal fistula
• (E) Esophageal atresia;
• (R) Renal (kidney) anomalies including renal agenesis, horseshoe kidney, and cystic and/or dysplastic kidneys;
• (L) Limb abnormalities.

Because these malformations were observed to occur together more often than would be expected by chance alone (but for which no specific cause has been determined), the condition was termed an association. The diagnosis is a diagnosis of exclusion, which means that other conditions need to be ruled out before making a diagnosis of VACTERL.

To make a diagnosis, a genetic doctor will typically conduct a very detailed physical exam, collect a family history, and investigate the presence of internal malformations. Supporting evaluations, such as genetic testing to rule out other similar syndromes, may also be needed. Depending on the features present, some conditions that may be considered when diagnosing a person who has features of VACTERL association (differential diagnosis) may include:

• Baller-Gerold syndrome
• CHARGE syndrome
• Currarino disease
• 22q11.2 deletion syndrome
• Fanconi anemia
• Feingold syndrome
• Fryns syndrome
• MURCS association
• Oculo-auriculo-vertebral spectrum
• Opitz G/BBB syndrome
• Pallister-Hall syndrome
• Townes-Brocks syndrome
• VACTERL with hydrocephalus
• Alagille syndrome
• Basal cell nevus syndrome
• McKusick-Kaufman syndrome
• Holt-Oram syndrome
• TAR syndrome

Because there is no known cause of VACTERL association, there is no specific test to confirm the diagnosis of this condition. If an individual has a specific diagnosis of another syndrome or genetic condition in addition to the features of VACTERL association, genetic testing may be available for that condition.