VACTERL association is a condition characterized by having at least three of the following birth defects: vertebral defects, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb abnormalities, and esophageal atresia. It occurs in 1 in 10,000 to 40,000 births. While the cause is unknown, genetic and environmental factors likely play a role. Treatment involves surgery to address specific defects, with long-term management by specialists. The prognosis depends on the severity and type of defects present.

1. VACTREL association

2. 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.
 V = vertebral defects
 A = anal atresia
 C = cardiac defects
 T = tracheo-esophageal fistula
 R = renal anomalies
 E = esophageal atresia
 L = limb abnormalities

3. Frequency
 VACTERL association occurs in 1 in 10,000
to 40,000 newborns.

4. Description
 Defects in the vertebrae: 60-80% of people. These defects may
include misshapen vertebrae, fused vertebrae, and missing or
extra vertebrae.
 narrowing or blockage of the anus (anal atresia): 60-90%. Anal
atresia may be accompanied by abnormalities of the genitalia
and urinary tract.
 cardiac defects: 40-80% of individuals. Cardiac defects can range
in severity from a life-threatening problem to a subtle defect that
does not cause health problems.
 tracheo-esophageal fistula: 50-80%. It is an abnormal
connection between the esophagus and the trachea. Tracheo-
esophageal fistula can cause problems with breathing and
feeding early in life and typically requires surgical correction in
infancy.

5.  renal anomalies: 50-80%. Affected
individuals may be missing one or both
kidneys or have abnormally developed or
misshapen kidneys, which can affect kidney
function.
 Limb abnormalities: 40-50%. 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.

8. Causes
 VACTERL association is a complex condition that
may have different causes in different people. In
some people, the condition is likely caused by
the interaction of multiple genetic and
environmental factors. Some possible genetic
and environmental influences have been
identified and are being studied.
 No specific genetic or chromosome problem has
been identified with VACTERL association.
VACTERL can be seen with some chromosomal
defects such as trisomy 18 and is more
frequently seen in babies of diabetic mothers

9. Inheritance pattern
 Most cases of VACTERL association are sporadic.
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.

10. Diagnosis
Because the cause of VACTERL association is
unknown, no laboratory test exists that can
diagnose or rule out VACTERL association. The
diagnosis is a clinical diagnosis based on the
features seen. It may take some time to do all
the testing necessary to make a diagnosis of
VACTERL association. A diagnosis may be made
based upon a complete physical exam and a
variety of specialized tests that look for the
major and minor features of VACTERL
association listed above.

11. Management
 Although children with VACTERL association have many
problems, they can survive and become healthy. The
treatment of VACTERL association is directed toward the
specific symptoms that are apparent in each individual,
which often varies greatly. Many of the structural
abnormalities (radial defects, heart defects, anal atresia,
etc.) can be surgically corrected.
 Infants diagnosed with VACTERL association will need to be
followed by a number of medical and developmental
specialists depending on their individual needs. Some of
the medical specialists who often follow children with
VACTERL association include cardiologists, urologists,
orthopedists, and ear, nose and throat physicians and
clinical geneticists.

12.  Genetic counseling may be of benefit for
affected individuals and their families.
Other treatment is symptomatic and
supportive. A team approach is essential
for these complex children.

13.  The Vertical Expandable Prosthetic Titanium Rib
(VEPTR) was approved by the FDA in 2004 as a
treatment for thoracic insufficiency syndrome
(TIS) in pediatric patients. TIS is a congenital
condition where severe deformities of the chest,
spine, and ribs prevent normal breathing and
lung development. The VEPTR is an implanted,
expandable device that helps straighten the
spine and separate ribs so that the lungs can
grow and fill with enough air to breathe. The
length of the device can be adjusted as the
patient grows.

16. Tracheo-esophageal fistula &
esophageal atresia repair
 Esophageal atresia (EA) occurs when the
upper part of the esophagus does not
connect with the lower esophagus and
stomach.
 Tracheoesophageal fistula (TEF) is an
abnormal connection between the upper part
of the esophagus and the trachea
 This surgery is almost always done soon after
birth. Both defects can often be repaired at
the same time.

17. The surgery takes place this way:
 The surgeon makes a cut on the side of the chest
between the ribs.
 The fistula between the esophagus and trachea is
closed.
 The upper and lower portions of the esophagus are
sewn together.
 If the two parts of the esophagus are too far apart,
then:
 Only the fistula is repaired during the first surgery.
 A gastrostomy tube may be placed to give the child
nutrition.
 The child will have another surgery later to repair the
esophagus.
 Sometimes the surgeon will wait 2 to 4 months before
doing the surgery. Waiting allows the baby to grow or
have other problems treated.