VATER syndrome, often called VATER association, is a group of birth defects that often happen together. VATER is an acronym. Each letter stands for a part of the body affected:
- vertebrae (spinal bones)
- tracheoesophageal (trachea and esophagus)
- renal (kidney)
The association is called VACTERL if the heart (cardiac) and limbs are also affected. As this is very commonly the case, VACTERL is often the more accurate term.
To be diagnosed with VATER or VACTERL association, a baby must have birth defects in at least three of these areas.
VATER/VACTERL association is rare. An estimated 1 out of every 10,000 to 40,000 babies is born with this group of conditions.
What causes it?
Doctors don’t know exactly what causes VATER association. They believe the defects happen early in pregnancy.
A combination of genes and environmental factors may be involved. No single gene has been identified, but researchers have found a few chromosomal abnormalities and gene changes (mutations) related to the condition. Sometimes more than one person in the same family will be affected.
What are the symptoms?
The symptoms depend on which defects a baby has.
Up to 80 percent of people with 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 shaped bones
- bones that are fused together
- curved spine (scoliosis)
- extra ribs
Between 60 and 90 percent of people with VATER association have a problem with their anus, such as:
- a thin covering over the anus that blocks the opening
- no passageway between the bottom of the large intestine (rectum) and anus, so stool can’t pass from the intestine out of the body
Problems with the anus can cause symptoms such as:
- a swollen belly
- no bowel movements, or very few bowel movements
The “C” in VACTERL stands for “cardiac.” Heart problems affect 40 to 80 percent of people with this condition. These can include:
- Ventricular septal defect (VSD). This is a hole in the wall that divides the right and left lower chambers of the heart (ventricles).
- Atrial septal defect. This is 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 (overriding 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 properly form, preventing blood from flowing through the heart.
- Patent ductus arteriosus (PDA). PDA occurs when there’s 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. The two main arteries out of the heart are backwards (transposed).
Symptoms of heart problems include:
- trouble breathing
- shortness of breath
- blue color to the skin
- abnormal heart rhythm
- fast heart rate
- heart murmur (whooshing sound)
- poor eating
- no weight gain
A fistula is an abnormal connection between the trachea (windpipe) and the esophagus (the tube that carries food from the mouth to the stomach). These two structures are not normally connected at all. It interferes with food passing from the throat to the stomach, diverting some food into the lungs.
- breathing food into the lungs
- coughing or choking while feeding
- blue color to the skin
- trouble breathing
- swollen belly
- poor weight gain
About 50 percent of people with VATER/VACTERL have kidney defects. These can include:
- poorly formed kidney(s)
- kidneys that are in the wrong place
- a blockage of urine out of the kidneys
- backup of urine from the bladder into the kidneys
Kidney defects can cause frequent urinary tract infections. Boys can also have a defect in which the opening of their penis is on the bottom, instead of at the tip (hypospadias).
Up to 70 percent of babies with VACTERL have limb defects. These can include:
- missing or poorly developed thumbs
- extra fingers or toes (polydactyly)
- webbed fingers or toes (syndactyly)
- poorly developed forearms
Other, more general symptoms of VATER association include:
- slow growth
- failure to gain weight
- uneven facial features (asymmetry)
- ear defects
- lung defects
- problems with the vagina or penis
It’s important to note that VATER/VACTERL association does not affect learning or intellectual development.
How is it diagnosed?
Because VATER association is a cluster of conditions, no single test can diagnose it. Doctors usually make the diagnosis based on clinical signs and symptoms. Babies with this condition have at least three VATER or VACTERL defects. It’s important to rule out other genetic syndromes and conditions that can share features with VATER/VACTERL association.
What are the treatment options?
Treatment is based on what types of birth defects are involved. Surgery can fix many of the defects, including problems with the anal opening, bones of the spine, heart, and kidneys. Often these procedures are done soon after the child is born.
Because VATER association involves several body systems, a few different doctors treat it, including a:
- cardiologist (heart problems)
- gastroenterologist (GI tract)
- orthopedic specialist (bones)
- urologist (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 like a physical therapist and occupational therapist.
The outlook depends on which types of defects a person has, and how these problems are treated. Often people with VACTERL association will have symptoms throughout their lives. But with the right treatment, they can lead healthy lives.