Vater syndrome is a cluster of birth defects, irregularities you’re born with. They happen when different parts of the body don’t form properly in the womb.
The cause of Vater syndrome is unknown but is thought to be the result of several factors.
The term Vater is an acronym. The letters stand for different parts of the body that have birth defects. For example:
- Vertebrae, in which the bones of your spine are missing or irregular
- Anus, where you have a blocked anus called impeforate anus, or an anus that doesn’t open to the outside of your body, called anal tresia
- Trachea, where you have an irregular connection between your trachea and esophagus called a fistula
- Esophagus, where your esophagus doesn’t have an opening, called esophageal atresia
- Renal, defects that affect your kidneys
A child is diagnosed with Vater syndrome when three or more parts of the body have birth defects.
How Common Is Vater Syndrome?
Vater syndrome happens in about 1 in 10,000 to 40,000 newborns. It’s difficult to get a true measure of how often it happens, though. Some studies use different definitions and diagnosis information, so it might be underdiagnosed. Research shows that it’s slightly more common in boys.
The syndrome isn’t linked to any one region or group of people and usually isn’t inherited. It also typically only happens to one person in the family. If you have one child with Vater syndrome, the risk of having another child with the condition is low (around 1% or 1 in 100).
What Are the Causes of Vater Syndrome?
Vater syndrome causes are unknown, and the condition generally isn’t well understood. It is a complex condition, and different people can have different causes. Researchers think that genetic and environmental factors play a role, but no specific genes have been found.
Since the syndrome affects lots of parts of the body, it’s clear that something happens early in the womb that disrupts growth. Some research shows that it happens more often in pregnant women with diabetes, and it might also be linked to mitochondrial dysfunction. This means something happens with the power center of your cells that causes early growth problems.
In some cases, birth defects can be severe in Vater syndrome. One treatment to stabilize spinal bones, called spinal fusion, can lead to permanent disability and qualifies for disability benefits. This surgery might also be called a fusion of vertebral bodies, fused vertebrae, or vertebral fusion.
What Are the Symptoms of Vater Syndrome?
Vater syndrome symptoms can vary depending on the type of birth defect, the organ involved, and how much it’s affected. Spine and tracheoesophageal (the tube that leads from the throat to the lungs and the tube that leads from the throat to the stomach) defects are the most common symptoms and affect about 70% of people with Vater syndrome. Anal atresia (the anus is blocked on the outside) and kidney defects happen in about 50% of people with Vater syndrome. The specific defects can vary.
Some Vater syndrome symptoms can include:
- Missing vertebrae
- Missing ribs
- Extra ribs
- Butterfly-shaped vertebrae
- Abnormal windpipe connections
- Missing esophagus opening
- Missing anus opening
- Hole in the heart
- Malformed kidneys
- Urine backflow
- Missing thumb
- Malformed thumb
- Extra fingers or toes
Lots of babies with Vater syndrome are small at birth and grow slowly. Vater syndrome doesn’t cause intellectual disabilities.
What Are the Treatments for Vater Syndrome?
Vater syndrome treatment depends on the birth defect and the area that’s affected. In most cases, these defects aren’t life-threatening and they can be corrected or treated. This can include:
Sometimes your doctor might find birth defects during routine pregnancy screening, but Vater syndrome is usually found at birth after a physical exam. Some defects like a missing anus opening are found right after birth and surgery can be done within the first few days of birth.
In some cases, surgeries might have to be done again as your baby grows or to repair other areas. Most people have a team of doctors and regular appointments to monitor the baby’s health.
Vater syndrome is complex and can lead to a lot of medical care, but the outlook is good. Unless you have lots of severe defects and disabilities, you can live a normal and fulfilling life with Vater syndrome.