What Is Vacterl?

What is Vater/Vacterl?

VATER or VACTERL association is an acronym used to describe a series of characteristics which have been found to occur together. V stands for vertebrae, which are the bones of the spinal column. A stands for imperforate anus or anal atresia, or an anus that does not open to the outside of the body. TE stands for tracheoesophageal fistula, which is a persistent connection between the trachea (the windpipe) and the esophagus (the feeding tube). R stands for renal or kidney anomalies and radial or arm anomalies. C is added to the acronym to denote cardiac anomalies, and L is often added to stand for limb anomalies. Babies who have been diagnosed as having VATER association usually have at least three or more of these individual anomalies. There is a wide range of manifestation of VATER association so that the exact incidence within the population is not exactly known.

What are the heart problems seen with VATER association?

Up to three-quarters of patients with VATER association have been reported to have congenital heart disease. The most common heart defects seen with VATER association are ventricular septal defects, atrial septal defects and Tetralogy of Fallot. Less common defects are truncus arteriosus and transposition of the great arteries. 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 features of VATER association, consultation with a pediatric cardiologist is recommended.

What other defects are seen with VATER association?

Vertebral anomalies, or defects of the spinal column, usually consist of small (hypoplastic) vertebrae or hemivertebra where only one half of the bone is formed. About 70 percent of patients with VATER 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 VATER. Later in life these spinal column abnormalities may put the child at risk for developing scoliosis, or curvature of the spine.

Anal atresia or imperforate anus is seen in about 55 percent of patients with VATER 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 tracheo-esophageal fistula (TE fistula) is seen in about 70 percent of patients with VATER association, although it can frequently occur as an isolated defect. Fifteen percent to 33 percent of patients with TE fistulas will also have congenital heart disease. However these babies usually have uncomplicated heart defects, like a VSD, which may not require any surgery.

Renal or kidney defects are seen in approximately 50 percent of patients with VATER association. In addition, up to 35 percent of patients with VATER 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 up to 70 percent of babies with VATER 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 VATER are born small and have difficulty with gaining weight. Babies with VATER association, however, do tend to have normal development and normal intelligence.

What causes VATER association?

No specific genetic or chromosome problem has been identified with VATER association. VATER can be seen with some chromosomal defects such as Trisomy 18 and is more frequently seen in babies of diabetic mothers. VATER association, however, is most likely caused by multiple factors.

What if my baby is diagnosed with VATER association?

The important thing is to identify all of the possible associated defects and treat them accordingly. Unless there are several very severe defects, babies with VATER association do well and can lead normal productive lives.

What is VATERS?

VATERS which is also referred to as VACTERL association. It is a association characterized by the sporadic, nonrandom association of specific abnormalities. Each letter stands for a specific abnormality.

V: Vertebral dysgenesis

A: Anal atresia

C: Cardiac anomalies

T-E: Fistula +/- esophageal atresia

R: Renal or Radius anomalies

L: Limb anomalies A person with more than two problems in any combination may be recognized as fitting in the VATER Association. However, VATER Association is not a diagnosis. There is no one cause for the association of these problems in individuals.

If VATER Association is not a diagnosis, why label my child with it?

The VATER acronym is a tool for physicians. These groupings of problems tend to occur together more often than can be explained by chance. If a physician sees at least two problems that fit within the VATER Association, he/she knows to look for other related problems.

Problems that are identified early can often be fixed with surgery or treated with medicines or other therapies before your child has major complications. Therefore, several different specialists may see your child and have several different tests done. Possible diagnoses to explain the associated problems in your child will be explored. However, a specific diagnosis is not identified in the majority of children who have two or more of the associated problems.

What can I expect for my child who has problems that fit within the VATER Association?

Children who have VATER associated problems may have delayed growth and development in the early years. The majority of children have normal intelligence. The specific needs for each child who has associated problems vary. One child may have heart, kidney and spine problems. Another child may have a missing or unusually formed thumb and a tracheal esophageal fistula. Comparisons between the two children cannot be made.

For this reason, you will need to talk to your child's specialists to know what to expect. Write down questions before you meet with each physician. Make sure he/she answers each question or concern. If you do not understand, say so and ask him/her to repeat what was said in simpler terms.

Can this happen in future children?

Sometimes VATER Association problems can be due to known syndromes. If this is the case with your child, a genetic professional can discuss the chances of the syndrome happening again.

In most cases, a cause cannot be found which explains the VATER Association problems. Such associated problems do not appear to run in families. No specific drug, chemical, radiation or other environmental factor has been shown to cause the associated problems. Parents can often be reassured that nothing they did or didn't do during pregnancy caused this to happen in their child.

Without a genetic diagnosis, the chance of VATER Association problems occuring in future pregnancies is low. This is also true for the offspring of the child who has VATER Association problems.

Can this be detected before the child is born?

Many of the VATER Association problems can be detected by a level-two ultrasound. It can be done as early as 18 weeks in pregnancy. The unborn child's bony structures and major organs are closely examined with the ultrasound. Talk with your obstetrician if you are interested in having this done.