How Can Pediatric Vater Syndrome Affect Toddlers?

VATER syndrome is a combination of several congenital abnormalities that can vary from one individual to the next. As such, it is not classified as a disease but as a non-random association. VATER is an acronym; the condition is also referred to as VACTERL association or VATER association. It might sound scary, but there are many treatments available that can help. 

What Are the Different Types? 

VATER refers to the five organ systems in which a child may have abnormalities; to be diagnosed with VATER syndrome, an individual must have at least three of the following congenital anomalies.

The most common congenital malformations are:

1. Vertebral anomalies: These refer to an abnormal curvature of the spine called scoliosis, malformed ribs or vertebrae, missing bones, extra ribs, fused bones, or abnormally formed bones. Approximately 80% of patients with VATER syndrome present with vertebral anomalies.
2. Anal atresia: Also called imperforate anus, anal atresia refers to anorectal malformations. Most commonly, the opening of the anus is missing or blocked. This is the second most common symptom found.
3. Tracheoesophageal fistula (TEF): This refers to the abnormal connection of the trachea or windpipe and the esophagus. It can lead to breathing and feeding problems, respiratory infections, and trouble swallowing. 50-80% of affected individuals have TEF.
4. Esophageal abnormalities: This refers to additional problems with the esophagus not related to tracheal anomalies, including esophageal atresia, which causes the esophagus to end in a pouch instead of the stomach. It could also refer to esophageal fistula, when the esophagus connects to another part of the body, commonly the lungs. 
5. Renal abnormalities: This refers to kidney or renal anomalies or issues with the urinary tract. Most common are malformed kidneys or a displaced urethra opening. In addition, boys may have hypospadias where the urethral opening is at the bottom of the penis instead of the tip. 

A person may also have: 

1. Cardiac abnormalities: Approximately 50% of children will the condition will have cardiac anomalies.
2. Hypoplastic left heart syndrome (HLHS): A malformation of the left side of the heart.
3. Atrial septal defect: A hole between the heart's two upper chambers.
4. Patent ductus arteriosus (PDA): An abnormal opening in a blood vessel that keeps blood from traveling to the lungs for oxygenation.
5. Tetralogy of Fallot: A combination of four heart defects that affect the aortic valve, pulmonary valve, and right ventricle.
6. Transposition of the great arteries: Where two of the heart’s main arteries are backward. 
7. Ventricular septal defect (VSD): A hole in the wall between the heart's right and left lower chambers.
8. Limb abnormalities: Many children with VATER syndrome have incidences of limb differences. Limb defects may include extra or missing fingers and toes, webbed fingers and toes, or underdeveloped thumbs and forearms. 

What Causes VATER Syndrome? 

Fortunately, the prevalence of VATER syndrome is rare; however, its scarcity makes it difficult for providers to pin down its etiology. Based on case reports, it is believed to only occur in one out of every 10,000-40,000 births. So as a new or expectant parent, it’s not something common you generally need to be worried about. 

One association discovered is that women with diabetes are more prone to having babies with VATER syndrome. Beyond that, the current belief is that a genetic defect occurs in early pregnancy, which causes agenesis of a fetus's limbs and organ systems. 

How is it Diagnosed? 

Currently, no test can point to a chromosome abnormality or blood work that can uncover pediatric VATER syndrome. Instead, it is diagnosed by the exclusion process, meaning once other causes of possible birth defects have been ruled out and a child has at least three of the seven conditions mentioned, they will receive a diagnosis. 

A diagnosis typically begins with a physical examination to rule out other causes. Once an examination and medical history are completed, if the provider notices features of VACTERL association, they may order x-ray imaging, lab tests, or refer the patient to a specialist. 

In some cases, imaging during pregnancy can alert doctors to vertebral, organ, and limb anomalies and may lead to a prenatal diagnosis. 

What is the Outlook for a Child With VATER Syndrome? 

Despite the grim-sounding symptoms associated with VATER syndrome, many of these congenital disabilities can be surgically fixed or altered shortly after birth at a children’s hospital. Additionally, medications and physical and occupational therapies can significantly increase a child’s quality of life. So even in the unlikely event that your child is diagnosed with the syndrome, there are treatments that can help. 

In most cases, the syndrome is not life-threatening; however, it may require several pediatric surgeries. Additionally, it does not affect intellectual capabilities. With adequate healthcare and support from specialist providers, many children go on to live full and meaningful lives. In some instances, children with VACTERL association have chronic health conditions, most commonly heart disease, that continue into adulthood.

What Can I Do to Help My Toddler if They Have the Syndrome? 

Signs of VATER syndrome are usually prevalent at birth or develop within the first few weeks of life. However, once diagnosed, and surgeries and support treatment begin, most children can lead happy and productive lives. 

A toddler with VATER syndrome may have physical delays; however, both physical therapy and occupational therapy have been shown to be very helpful. So while a toddler may have delays in some of their fine or gross motor skills, therapy and accommodations at home and school will help them greatly.

If your child appears physically different because of limb or spinal anomalies, prepare new people to meet them by having discussions first. If your toddler will be attending a preschool or adaptive childcare program, have them visit first and allow teachers to ask questions that can help make their settling in period as comfortable and smooth as possible. 

You can also provide books and other materials for the classroom to help others understand your child. Books are also an excellent way to help siblings process why their brother or sister may appear different from them or their friend’s siblings. The following books are all fantastic choices: 

• What Happened to You by James Catchpole
• I Am Me by Tristan Towns
• Some Kids Use Wheelchairs: Understanding Differences Series
• Roxy the Raccoon by Alice Reeves
• What Do You See When You Look at Me by Angela Ray Rodgers
• The World Needs More Purple People by Kristin Bell

For more information or support for a child diagnosed with VATER syndrome, check out the following sites:

Birth Defect Research for Children - Birthdefects.org

Genetic and Rare Disease Information Center (GARD) - rarediseases.info.nih.gov

Children’s Hospital of Philadelphia -  CHOP.edu

Cincinnati Children’s Hospital - cincinnatichildrens.org

Whilst a diagnosis of the syndrome can be frightening for any child and their parent, with the right care, treatment, intervention and support, the outlook for a toddler with certain types of the syndrome can be very positive.