VATER syndrome, also known as VACTERL association, is a complex condition that affects several parts of the body. VATER (VACTERL) is an acronym that stands for the affected parts of the body including the vertebrae, anus, heart, trachea, esophagus, kidney and limbs. Treatment is symptomatic and unique for each person diagnosed with the condition.
VATER syndrome (VACTERL association) is a group of growth abnormalities (birth defects) that happen in the early stages of embryo development during pregnancy. The term VATER is an acronym that identifies parts of the body that didn’t form properly during fetal development. Each case of VATER syndrome is unique. A diagnosis occurs if your child has at least three parts of their body affected by symptoms.
The acronym VATER stands for parts of the body affected by symptoms including:
A redefinition of VATER syndrome changed the acronym to VACTERL to highlight other parts of the body affected by this condition including:
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VATER syndrome can affect anyone.
No. VATER syndrome isn’t a hereditary condition because the condition usually only affects one person in a family (sporadic). Multiple genetic and environmental factors determine who is at risk of acquiring the condition and the severity of their symptoms.
VATER syndrome affects one out of 10,000 to 40,000 newborns. The rate of occurrence could be underestimated due to children being born with mild or only a few symptoms.
Symptoms of VATER syndrome affect different parts of the body (anatomical structure) that can be present at birth (congenital) or appear later in life. Symptoms are unique to each person diagnosed with the condition and the symptoms that affect one child could vary greatly in another.
The vertebrae are small bones in the spinal column. VATER syndrome can affect how the vertebrae form during fetal development in the uterus. Symptoms that affect the vertebrae include:
People diagnosed with VATER syndrome could have symptoms that affect the shape of intestine that leads to the anus (anal atresia). This makes it difficult for you to pass stool (poop) because the opening is either too small or in the wrong place.
Symptoms of VATER syndrome could affect how the heart forms and functions including:
Symptoms that affect the heart can be life-threatening. In some cases, small holes in the heart from VSD or ASD could close or heal on their own over time.
The most common symptom of VATER syndrome is a when the trachea and the esophagus (tracheoesophageal fistula) or the esophagus and the stomach (esophageal atresia) don’t connect where they should. These conditions could cause:
Renal symptoms affect the kidneys and urinary tract. Renal symptoms could include:
VATER syndrome symptoms can affect the radius, which is the thumb side of your forearm. Radius symptoms could include:
Symptoms can also affect other limbs on the body (the arms and legs beyond the radius) including:
VATER syndrome can cause symptoms that aren’t specified in the acronym of the condition. Additional symptoms could include:
The cause of VATER syndrome is unknown. Research is ongoing to understand what causes this condition, but studies suggest it could result from a combination of environmental and genetic changes that begin in the early stages of pregnancy when the embryo develops.
A diagnosis of VATER syndrome usually happens during a prenatal exam before birth or during early infancy. Sometimes, symptoms aren’t noticeable during childhood and you could receive a diagnosis in adulthood.
VATER syndrome is a diagnosis of exclusion. This is when your provider will test and rule out all other potential conditions. Your provider will perform a complete physical exam to look for at least one birth defect that is present in a body part identified in the acronym of the condition. Most cases of VATER syndrome have a minimum of three parts of the body affected.
After a physical exam, your provider will offer additional tests — like an X-ray, ultrasound or blood tests — to locate and treat any symptoms that could be life-threatening, especially symptoms that affect the heart and kidneys.
Treatment for VATER syndrome focuses on reducing symptoms caused by malformations of the body during fetal development. Treatment is unique for each person diagnosed with the condition and could include:
Treatment with surgery could occur within the first days of life to prevent complications. Repeat surgery might be necessary as your child grows.
Your child will need ongoing treatment throughout their life to alleviate symptoms of the condition. As their caregiver, make sure you keep track of your child’s health and growth during childhood to make sure they don’t miss developmental milestones. Stay up to date with your child’s healthcare providers, which could include a team of specialists to treat your child’s unique symptoms.
Some families find support through genetic counseling to help them navigate their child’s diagnosis and care options.
Since the cause of VATER syndrome is unknown, there is no way to prevent the condition. Research is ongoing to better understand the causes of this condition and the risk factors for new parents.
Talk with your healthcare provider to learn how you and your developing baby can stay healthy during your pregnancy. Genetic testing and prenatal care can detect some symptoms of VATER syndrome before your baby is born to help your providers prepare to treat your child on your due date. After your baby is born, your provider will make sure your baby is healthy enough for surgery to correct any symptoms that could be life-threatening. Treatment will be lifelong as symptoms could arise throughout childhood and into adulthood.
There is no cure for VATER syndrome.
If your child experiences symptoms of VATER syndrome that prevent them from thriving, visit your healthcare provider.
Visit the emergency room if your child has an irregular heartbeat, isn’t eating, has trouble breathing or can’t pass stool or urine.
A note from Cleveland Clinic
It may be overwhelming to learn that your newborn has several birth defects that might prevent you from taking your baby home from the hospital right away. A team of providers will make sure your child is healthy enough for treatment and will work to remove any life-threatening symptoms that they might experience. Many parents and caretakers find support through genetic counseling after a VATER syndrome diagnosis to help families learn more about their newborn’s condition.
Last reviewed by a Cleveland Clinic medical professional on 08/30/2022.
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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy