VATER Syndrome: Symptoms, Causes, Diagnosis, Treatment and Prognosis

It is a set of birth defects that often occur together.

The VATER syndrome is sometimes also called the VATER or VACTERL association.

The initials in VATER syndrome refer to five different areas in which a child may have abnormalities in the following areas of the body:

  • Vertebrae
  • Year.
  • Trachea or esophageal atresia.
  • Esophagus.
  • Kidneys (that is, in the renal area).

There can also be heart and limb conditions, which changes the acronym to VACTERL, as this is the most common case it is usually the most precise and used term.

A child diagnosed with one of these syndromes will not necessarily have a problem in all areas, but a constellation of birth defects that involve many of the areas mentioned.

What are the symptoms?

The symptoms will depend on the defects that the baby presents.

Vertebral defects

Up to 80 percent of people with a VATER association have defects in the bones of their spine (vertebrae). These problems can include:

  • Missing bones in the spine.
  • Extra bones in the spine.
  • Abnormally formed bones.
  • Fused bones.
  • Curved spine (scoliosis).
  • Extra ribs.

Anal defects

Between 60 and 90 percent of people with this type of syndrome have a problem with their anus, such as:

  • A thin layer on the anus that blocks the opening.
  • There is no passage between the lower part of the large intestine (rectum) and the anus, so stool cannot pass from the intestine out of the body.

Problems with the anus can cause symptoms such as:

  • A swollen belly.
  • Vomiting
  • No bowel movements, or very few bowel movements.

What happens is that babies will not be able to pass meconium, the dark stools that they pass during the first days of life, in the usual way.

This can cause swelling in the abdomen and vomiting. If there is an abnormal passage that joins the anus with the vagina or urethra, stool may partially pass out of the body, near the vagina in girls or through the urethra in boys.

As stool can only be partially eliminated from the body, this will not relieve pressure on the abdomen, causing the aforementioned bloating and vomiting.

Heart defects

The “C” in VACTERL stands for “cardiac.” Heart problems affect 40 to 80 percent of people with this condition. These may include:

  • Ventricular Septum Defect (DVT):  This is a hole in the wall that divides the heart’s right and left lower chambers (ventricles).
  • Atrial septal defect:  occurs when a hole in the wall divides the two upper chambers of the heart (atrium).
  • Tetralogy of Fallot : This is a combination of four heart defects: VSD, an enlarged aortic valve (antegrade aorta), narrowing of the pulmonary valve (pulmonary stenosis), and thickening of the right ventricle (right ventricular hypertrophy).
  • Hypoplastic left heart syndrome: This is when the left side of the heart does not form properly, preventing blood from flowing through the heart.
  • Patent ductus arteriosus (PDA): PDA occurs when there is an abnormal opening in one of the heart’s blood vessels that prevents blood from going to the lungs to pick up oxygen.
  • Transposition of the great arteries:  These are two main arteries that come out of the heart are backwards (transposed).

Symptoms that occur with the presence of heart problems include:

  • Difficulty breathing.
  • Blue color of the skin.
  • Fatigue.
  • Abnormal heart rhythm
  • Fast heart rate
  • Heart murmur (hissing sound).
  • Eat less.
  • No weight gain.

Tracheoesophageal fistula/esophageal atresia

They affect between 50 and 80 percent of babies born with the VACTERL association. A fistula is an abnormal connection between the trachea and the esophagus (the tube that carries food from the mouth to the stomach).

These two structures are normally not connected at all and interference occurs with food passing from the throat to the stomach, diverting some food to the lungs.

On the other hand, an esophageal atresia is when a short section in the upper part of the esophagus (esophagus or food pipe) has not formed correctly, so it is not connected to the stomach. This means that food cannot pass from the throat to the stomach.

Symptoms include:

  • Breathing food into the lungs.
  • Coughing or choking while feeding.
  • Vomiting
  • Blue color to the skin.
  • Difficulty breathing.
  • Swollen belly
  • Little weight gain

Kidney defects

About 50 to 80 percent of people with VATER have kidney defects. These may include:

  • Badly formed kidneys.
  • Absence of one or both kidneys.
  • Kidneys that are in the wrong place.
  • A blockage of urine outside the kidneys.

Kidney damage can cause frequent urinary tract infections. Boys may also have a defect in which the opening of their penis is at the bottom, rather than at the tip ( hypospadias ).

Limb or limb defects

Between 50 and 70 percent of babies with this syndrome usually have limb defects. These may include:

  • Thumbs missing or underdeveloped.
  • Extra fingers or toes (polydactyly).
  • Webbed fingers (syndactyly).
  • Poorly developed forearms.

Other abnormalities have been reported in babies born with the VACTERL association, all babies undergo a thorough physical examination to detect any other type of problems.

Other symptoms

Other more general symptoms of VATER association include:

  • Slow growth
  • Lack of weight gain.
  • Uneven facial features (asymmetry).
  • Ear defects.
  • Lung defects
  • Problems with the vagina or penis.

It is important to note that the VACTERL association does not affect learning or intellectual development.

Diagnosis

The VACTERL association can be diagnosed before birth (prenatally), but this only happens if any of the problems are visible on ultrasound.

Most commonly, this syndrome is diagnosed after a baby has been transferred to a specialized unit for the treatment of tracheoesophageal fistula or esophageal atresia, anorectal abnormalities, or heart defects.

Since it is not a discrete disorder or disease, there is no medical test, such as a blood test, that can diagnose the problem. To be diagnosed with VATER Syndrome, a child must have at least three of the problems described above.

While the disorder is unusual (affecting one in 10,000 to 40,000 children), symptoms can vary greatly from child to child.

An important element of VATER is that it does not appear to affect intellectual development. Therefore, if a child has the physical symptoms of the syndrome along with developmental and / or cognitive disabilities, the diagnosis of the syndrome is not appropriate.

It is important to rule out other genetic syndromes and conditions that may share characteristics with the VACTERL association.

Causes of VATER syndrome

Doctors do not know exactly what causes the VATER association. They believe that defects occur early in pregnancy.

Since VATER is not a true disease, known as “non-random association of birth defects,” it is not known whether the specific set of birth defects that may be part of VATER or VACTERL is causally related.

However, they occur together too often to be a random collection of symptoms.

Currently there is no known cause, but it is believed that it is a genetic defect, a combination of genes and environmental factors may be involved.

No specific gene has yet been identified, but researchers have found some chromosomal abnormalities and genetic changes (mutations) related to the disease.

Sometimes more than one person in the same family will be affected. Research suggests that some type of damage can occur early in pregnancy, as already mentioned, plus diabetic women appear to be more likely to have children with VATER.

According to the published literature, this rare syndrome affects all races and men and women in equal numbers, there is evidence that it occurs in one in every 10,000 to 40,000 births.

Treatment

While some children with VATER or VACTERL may have such serious problems that they do not thrive as babies, many grow up and live full lives.

The method of treatment depends entirely on the specific needs of each child. For example, some of the organ and limb abnormalities can be successfully treated with surgery including problems with the anal opening, the bones of the spine, the heart, and the kidneys.

Others may require pharmaceutical interventions, physical therapy, occupational therapy, etc.

As children with the syndrome grow older and begin school, they may have some developmental or physical issues that need to be addressed. For example, they may have difficulty walking, vigorous exercise, or even fine motor coordination.

However, it is important to note that VATER is not a brain disorder. Most children with VATER should be able to handle the intellectual and cognitive demands of school without too much difficulty.

Parents of children with VACTERL may seek genetic counseling, especially if they are considering having more children. The disorder is genetic, and therefore your risk of having another child with a similar or related genetic disorder is higher.

Because the presence of this syndrome involves several body systems, a few different doctors treat it, including:

  • Cardiologist (for heart problems).
  • Gastroenterologist (regarding the gastrointestinal tract).
  • Orthopedic specialist (to study the bones).
  • Urologist (who takes care of the kidneys, bladder, and other parts of the urinary system).

Children with VATER association will often need lifelong monitoring and treatment to prevent future problems. They may also need help from specialists such as a physical therapist and an occupational therapist.

Life prognosis

The prognosis for children born with the VACTERL association is variable, depending on the symptoms present, although it improves over time as surgery and long-term control improve, so there is better hope and quality of life.

The prognosis will depend on what types of defects a person has and how these problems are treated. Often people with the association will have symptoms throughout their lives. But with proper treatment, they can lead healthy lives.

Also, it is important to report that children with the VACTERL association rarely have learning disabilities, so most will grow up to attend mainstream school.