VACTERL Association (VATER Syndrome)
VACTERL association is a group of seven birth defects that may occur in different areas of the body. The letters in VACTERL each represent an area of the body that can be affected.
What Is VACTERL Association?
VACTERL association (also called VATER syndrome) includes a group of seven conditions or birth defects in different parts of a child’s body. Anyone can be born with VACTERL association, but it’s very rare. Only about 1 in 10,000 to 40,000 newborns are born with it. While the condition includes up to seven parts of the body, not every child will have all seven conditions. A child can be diagnosed with VACTERL association if they have symptoms in at least three areas.
What Are the Signs/Symptoms of VACTERL Association?
The name comes from an acronym of the seven areas of the body that can be affected. Every case is unique and affects children differently. The seven affected areas include:
- Vertebrae (spine)
- Anorectal (anus and rectum)
- Cardiac (heart)
- Tracheal (windpipe)
- Esophagus (food pipe)
- Renal (kidney)
- Limbs (such as arms and hands)
Vertebral Anomalies
V = Vertebral relates the bones (vertebrae) in the spine. Children may have defects or changes in the bones of their spine or the ribs. Signs can include missing or extra bones, extra ribs, joined (fused) bones, unusually shaped bones or curvature of the spine (scoliosis). Related conditions include:
- Caudal regression
- Hemivertebrae
Anorectal Malformations
A = Anorectal malformations relate to the anus, the end of the large intestine where waste (stool) exits the body. These are birth defects when the anus and rectum (the lower end of the digestive tract) don't develop properly. Signs may include bloated abdomen, vomiting and lack of bowel movements. Related conditions include:
- Fistulas (rectovestibular, rectovaginal, rectourethral)
- Vaginal anomalies
Cardiac Anomalies
C = Cardiac relates to the heart. There are a number of different heart defects that relate to VACTERL association. Some symptoms may include shortness of breath or difficulty breathing, fatigue, blue skin color, abnormal heart rhythm, heart murmur, fast pulse and failure to gain weight/poor appetite. Related conditions include:
- Tetralogy of Fallot
- Transposition of the great arteries
- Ventricular septal defect (VSD)
Tracheal and Esophageal Anomalies
In children with VACTERL association, the trachea and esophagus may be connected, which allows food to enter the airway. Some symptoms may include trouble swallowing, choking while eating, breathing (aspirating) food into the lungs, blue color, poor appetite and weight gain, swollen stomach (abdomen) and vomiting.
T = Tracheal relates to the airway (windpipe) and how your child breathes. Related conditions include:
E = Esophageal relates to the pipe in the throat where food gets from the mouth to the stomach. This can affect how your child swallows and eats. Related conditions include:
Renal Anomalies
R = Renal relates to the kidneys and urinary tract. This may include how the kidneys form or where they are located. Signs may include blocked urine, urine collecting in the kidneys or urine backing up in the bladder. Males may have hypospadias, where the urethral opening is on the bottom of the penis instead of the tip. Related conditions include:
- Kidney transplant
- Unilateral renal agenesis (baby is born with only one kidney)
- Vesicoureteral reflux (VUR) (backward flow of urine from the bladder to the kidneys)
Limb Anomalies
L = Limb relates to arms, hands, legs and feet. While the thumb side of the forearm (radius) often is affected, other limbs also may be impacted. Signs can include extra fingers or toes, webbed fingers or toes, missing or undeveloped thumbs, underdeveloped forearms and clubfoot. Related conditions include:
- Hypoplasia (underdeveloped hands or arms, or fewer fingers than normal)
- Polydactyly (extra fingers)
- Syndactyly (webbed or joined fingers)
What Causes VACTERL Association?
Doctors do not know the exact cause of VACTERL association. It is not hereditary, which means it is not passed from parents to children. Some studies show it may be caused by environmental and genetic changes that happen early during pregnancy.
How Is VACTERL Association Diagnosed?
There is no single test for VACTERL association. Only about 1 in 10,000 to 40,000 newborns are born with it. Many symptoms are found at birth. Children must have three of the seven features to get this diagnosis.
How Is VACTERL Association Treated?
Nationwide Children’s Hospital has a full team of specialists who can treat all aspects of VACTERL association. Many different specialists are involved because the condition affects so many body systems.
Why Choose Us?
VACTERL association is a complex condition that requires expert care. Nationwide Children’s Hospital offers a team of specialists in many different types of care. We call this multidisciplinary care. All members of your child’s team are here, at one location. That means everyone works together to develop a plan that’s right for your child and your family.
You won’t find many other children’s hospitals that can treat so many complicated conditions at one time. When everyone works together toward a common goal, your child has the best chance for the best outcome.
