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VATER Syndrome/VACTERL Association

What is VACTERL, VACTERLS or VATER association?

VACTERL, VACTERLS or VATER association is a group of conditions that occur together.

The acronyms are defined as:

V - vertebrae, bones of the spinal column

A - imperforate anus or anal atresia, or an anus that does not open to the outside of the body

C - cardiac anomalies

TE - tracheoesophageal fistula, a persistent connection between the trachea (the windpipe) and the esophagus (the feeding tube)

R - renal or kidney anomalies

L - limb anomalies (radial agenesis)

S - single umbilical artery

Babies who have been diagnosed as having VACTERL association usually have at least one anomaly in all three involved body parts: the limbs, chest, and pelvis/lower abdomen region. The diagnosis also includes the probable presence of two or more anomalies in two body parts. There is a wide range of signs of VACTERL association, and the exact number of affected babies is not known. It has been estimated to occur in 1 in 10,000 to 40,000 newborns. VACTERL association frequency may be difficult to determine because different diagnostic criteria are used in different studies.

Heart Problems with VACTERL Association

The most common heart defects seen with VACTERL association are ventricular septal defect (VSD) and atrial septal defects.

Less common defects are hypoplastic left heart syndrome, truncus arteriosus, transposition of the great arteries, patent ductus arteriosus and Tetralogy of Fallot. Babies may have a murmur at birth; however, absence of a murmur does not rule out congenital heart disease. If a baby is suspected of having VACTERL association, consultation with a pediatric cardiologist is recommended.

Other Defects with VACTERL Association

Patients with VACTERL association will have vertebral anomalies. In early life these rarely cause any difficulties, although the presence of these defects on a chest X-ray may alert the physician to other defects associated with VACTERL.

Vertebral anomalies, or defects of the spinal column, usually consist of small (hypoplastic) vertebrae, missing vertebrae, or hemivertebra where only one half of the bone is formed. Other defects include fusion of vertebrae, missing ribs, increased number of ribs, or rib fusions. Scoliosis of the spine may also occur.

Anal atresia or imperforate anus is also seen in patients with VACTERL association. These anomalies are usually noted at birth and often require surgery in the first days of life. Sometimes babies will require several surgeries to fully reconstruct the intestine and anal canal.

Esophageal atresia with tracheoesophageal fistula (TE fistula) is the most common birth defect in VACTERAL association, although it can frequently occur as an isolated defect.

Renal or kidney defects are seen in patients with VACTERL association. In addition, patients with VACTERL association have a single umbilical artery (there are usually two), which can often be associated with kidney or urologic problems.

These defects can be severe with incomplete formation of one or both kidneys, or urologic abnormalities such as obstruction of outflow of urine from the kidneys or severe reflux (backflow) of urine into the kidneys from the bladder.

These problems can cause kidney failure early in life and may require kidney transplant. Many of these problems can be corrected surgically before any damage can occur.

Limb defects occur in babies with VACTERL association and include absent or displaced thumbs, extra digits (polydactyly), fusion of digits (syndactyly) and forearm defects.

Babies with limb defects on both sides tend to have kidney or urologic defects on both sides, while babies with limb defects on only one side of the body tend to have kidney problems on that same side.

Many babies with VACTERL are born small and have difficulty gaining weight. However, they tend to have normal development and intelligence.

VACTERL Association Causes

The cause of VACTERL association is not well understood. VACTERL association is a complex condition that may have different causes in different people. No specific genetic or chromosome problem has been identified with VACTERL association. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition. Each person is affected differently by VACTERL association. Genetic and environmental influences are being studied.

The developmental abnormalities characteristic of VACTERL association develop before birth. The disruption to typical development that causes VACTERL association likely occurs early in development, resulting in birth defects that affect multiple body systems. It is unclear why the features characteristic of VACTERL association group together in affected individuals.

Diagnosis of VACTERL Association

There is no available laboratory test for diagnosis. VACTERL association is diagnosed based on the presence of clinical features. People diagnosed with VACTERL association typically have at least three of the characteristic features described above. Affected individuals may have additional abnormalities that are not among the characteristic features of VACTERL association. Confirming a diagnosis is important as it can help with the identification of other possible associated medical diagnoses. Unless there are several very severe defects, babies with VACTERL association do well and can lead normal productive lives.

Last Updated 12/2023

Reviewed By Debbie Donovan, RN

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