VACTERL Association

What is VACTERL association?

VACTERL association refers to an acronym that describes is a nonrandom association of birth defects:

V: (costo-) vertebral abnormalities

A: anal atresia

C: cardiac defects

TE: tracheal-esophageal abnormalities

R: renal and radial abnormalities

L: limb abnormalities

S: single umbilical artery

These associations are highly variable, and the relevance of each component depends on the observers.

What causes VACTERL association?

The exact cause of VACTERL association is unknown, as most cases occur randomly for no apparent reason. However, some researchers believe that defects in the middle layer of the embryo during fetal development may result in some of the characteristics of VACTERL association.

What are the symptoms of VACTERL association?

The following are the some of the most common associated symptoms with each of the characteristics, although some may not develop until later in life:

• Vertebral abnormalities: defects in the spinal column, such as malformed vertebrae, rib abnormalities, scoliosis
• Anal atresia: abnormal bowel movements
• Cardiac defects: ventricular septal defects (VSDs) with rapid breathing, wheezing, unusually fast heartbeat, failure to thrive
• Tracheal-esophageal abnormalities: aspiration, respiratory infections, feeding and swallowing difficulties
• Renal abnormalities: UTIs, underdeveloped kidneys, reflux of urine, displaced kidneys
• Limb abnormalities: defects in the thumb, webbing of the digits, clubfoot

In addition to the previous symptoms, mild facial asymmetry, ear abnormalities, narrowing of the voice box, and protrusion of part of the intestines are also some reported symptoms that can occur with VACTERL association.

How is VACTERL association diagnosed?

VACTERL association is diagnosed by exclusion, without a set of validated diagnostic criteria. Usually, if at least three associated characteristics are present (determined by a clinical examination and specialized tests) a “secure” designation of VACTERL association is made.

What are the available treatments for VACTERL association?

Even though there are many problems in VACTERL association, diagnosed children are usually able to survive and become healthy with the proper symptom management treatment. For example, many structural abnormalities with VACTERL association can be corrected with surgery, and a Vertical Expandable Prosthetic Titanium Rib (VEPTR) could also be used to help straighten the spine and separate ribs.

Where can I find more information on VACTERL association?

• National Organization for Rare Disorders (NORD)
• NIH