VATER Syndrome (VACTERL Association)

What is VATER syndrome?

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.

What does the acronym VATER/VACTERL stand for?

The acronym VATER stands for parts of the body affected by symptoms including:

• Vertebrae.
• Anus.
• Trachea.
• Esophagus.
• Renal (kidney).

A redefinition of VATER syndrome changed the acronym to VACTERL to highlight other parts of the body affected by this condition including:

• Cardiac (heart).
• Limbs and radius.

Who does VATER syndrome affect?

VATER syndrome can affect anyone.

Is VATER syndrome a hereditary condition?

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.

How common is VATER syndrome?

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.

What are the symptoms of VATER syndrome?

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.

Vertebrae symptoms

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:

• Curvature of the spine (scoliosis).
• Malformed vertebrae (hemivertebrae, butterfly-shaped vertebrae, fused vertebrae).
• Missing tailbone.
• Rib abnormalities (missing ribs, an extra rib, fused ribs or split ribs).

Lower gastrointestinal tract (anus) symptoms

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.

Cardiac (heart) symptoms

Symptoms of VATER syndrome could affect how the heart forms and functions including:

• Aorta and pulmonary artery switch positions.
• Atrial septal defects (ASD).
• Fast heartbeat (tachycardia).
• Heart failure.
• Hypoplastic left heart syndrome.
• Rapid breathing and/or wheezing.
• Tetralogy of Fallot.
• Ventricular septal defects (VSD).

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.

Trachea and esophagus symptoms

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:

• Feeding difficulties.
• Respiratory infections (pneumonia).
• Swallowing problems.
• Trouble breathing.

Renal symptoms

Renal symptoms affect the kidneys and urinary tract. Renal symptoms could include:

• Abnormally positioned urethral opening (hypospadias).
• Kidneys forming incorrectly (renal dysplasia).
• Kidneys located in the wrong place (renal ectopia).
• Urine backflow into the bladder (vesicoureteral reflux).
• Urine collecting in the kidneys (hydronephrosis).
• Urinary tract infections.

Radius and limb symptoms

VATER syndrome symptoms can affect the radius, which is the thumb side of your forearm. Radius symptoms could include:

• Missing radius (radial aplasia).
• Underdeveloped radius (radial hypoplasia).
• Missing thumb.
• Extra bone in the thumb (triphalangeal thumb).

Symptoms can also affect other limbs on the body (the arms and legs beyond the radius) including:

• Clubfoot.
• Difficulty using certain fingers or toes (hypoplasia).
• Extra fingers or toes (polydactyly).
• Fused forearm bones (radioulnar synostosis).
• Webbed fingers and toes (syndactyly).

Unspecified symptoms

VATER syndrome can cause symptoms that aren’t specified in the acronym of the condition. Additional symptoms could include:

• Abnormally shaped ears.
• Asymmetrical facial features.
• Difficulty breathing out of the nose (choanal atresia).
• Fixed spinal cord (tethered spinal cord).
• Growing slower than normal.
• Intestines growing outside of the body (omphalocele).
• Narrow larynx (voice box).

What causes VATER syndrome?

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.

How is VATER syndrome diagnosed?

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.

How is VATER syndrome treated?

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:

• Surgery to repair malformations of the body.
• Physical or occupational therapy to improve muscle strength and range of motion.
• Medicine to alleviate symptoms.

Treatment with surgery could occur within the first days of life to prevent complications. Repeat surgery might be necessary as your child grows.

How do I take care of my child diagnosed with VATER syndrome?

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.

How can I prevent VATER syndrome?

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.

What can I expect if I have VATER syndrome?

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.

When should I see my healthcare provider?

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.

What questions should I ask my doctor?

• Does my child need surgery?
• What are the side effects of the treatment you recommended?
• What should I do if my child misses developmental milestones?
• How should I take care of my newborn after surgery?