Diagnoses Explained

Diagnoses Explained Series: VACTERL Association

In this post series, I will explain each of Teddy’s diagnoses in detail, with more medical terms and imaging if I am able to find them. These will be more technical posts, but for those interested, we hope it will educate more people on these rare conditions, so as the rate increases each year, there are more people out there familiar with these diagnoses who can help and educate themselves and others. Please feel free to ask questions and I will do my best to address them.  For today’s post, most of the technical information is copied directly from the Children’s Hospital of Philadelphia website: VACTERL Association (VATER syndrome) | Children’s Hospital of Philadelphia (chop.edu)

Over the course of Teddy’s first month of life, the doctors were able to start identifying all of Teddy’s anomalies and he was diagnosed with VaCTERL Association. VACTERL association, sometimes called VATER syndrome, is a group of conditions that occur together. The name is based on an acronym for the affected organs and systems:

V — the vertebrae (bones of the spinal column)
A —anus
C —cardiac anomalies
T— trachea
E— esophagus (the tube food enters when you swallow)
R —renal (kidney) anomalies
L —limb differences

VACTERL association presents differently in each affected person — not all patients will experience the same combination of symptoms — or the same degree of severity of symptoms. To be diagnosed with VACTERL, a baby must have anomalies in at least three of these symptoms. VACTERL is considered a rare condition. It’s estimated that 1 out of 10,000 to 40,000 babies is born with VACTERL. Because the condition presents in different ways and diagnostic criteria vary, it’s likely the condition is somewhat underdiagnosed.

There are currently no known direct causes of VACTERL as it affects the development of multiple body systems and takes place early in pregnancy. Scientists suspect it’s caused by a combination of genetic and environmental factors. There is also some evidence that women who have diabetes may be more likely to have babies with VACTERL; however, there is no direct connection.

There is no one test for VACTERL association, also known as VATER syndrome. Instead, it’s considered a “diagnosis of exclusion.” That means that when other causes of the birth defects have been ruled out, the remaining diagnosis is VACTERL association. To rule out other causes with similar symptoms, doctors will visually assess the patient and run a series of tests, including genetics. A child must have at least three affected systems out of the seven mentioned above to be diagnosed with VACTERL.

Indications of VACTERL are varied and affect many different parts of the body — not all patients will exhibit all of them. Following are some of the most common symptoms.

Vertebral anomalies: As many as 80% of people with VACTERL have defects or anomalies in the bones of their spine, sometimes also involving the ribs. These can include missing or extra bones, extra ribs, fused bones, abnormally shaped bones or curvature of the spine, known as scoliosis.

Anal anomalies: The majority of people with VACTERL association have an abnormal anus, including anal atresia (also called imperforate anus) which means the opening of the anus is missing or blocked. Signs of anal atresia include a bloated abdomen, vomiting, and a lack of (or light and irregular) bowel movements.

Cardiac anomalies: Roughly half of the children with VACTERL association will have some abnormalities of the heart. These can take many forms, but the most common are:

  • Atrial septal defect — a hole in the wall between the two upper chambers of the heart
  • Hypoplastic left heart syndrome (HLHS) —a malformation of the left side of the heart which prevents blood from flowing normally through the heart
  • Patent ductus arteriosus (PDA) — an abnormal opening in a blood vessel in the heart keeps blood from traveling to the lungs for oxygenation
  • Tetralogy of Fallot — a combination of four heart defects that affect the aortic valve, pulmonary valve and right ventricle
  • Transposition of the great arteries —two of the heart’s main arteries are backward
  • Ventricular septal defect (VSD) — a hole in the wall that divides the right and left lower chambers of the heart (ventricles)

Signs that a child has heart anomalies can include shortness of breath or difficulty breathing, fatigue, blue skin color, an abnormal heart rhythm, heart murmur, fast pulse and failure to gain weight/poor appetite.

Trachea and esophageal anomalies (TEF/EA): The trachea is more commonly called your windpipe; the esophagus is the tube that food enters when you swallow. Normally, these tubes are not connected in any way, but for children with VACTERL association, they are often attached to each other through a fistula (essentially a hole or passage between the two tubes) which allows food to enter the airway. Youth with VACTERL association may have other abnormalities, such as esophageal atresia, which means the esophagus ends in a pouch and doesn’t properly connect to the stomach. Signs of tracheal-esophageal involvement include difficulty swallowing (including coughing or choking while eating), aspirating food into the lungs, blue color, poor appetite and weight gain, swollen abdomen and vomiting.

Renal anomalies: About half of all individuals with VACTERL association have issues with their kidneys. These can take many forms including a missing or malformed kidney, kidneys out of place in the body and blocked urine flow. For boys, they may also have hypospadias, where the urethral opening is on the bottom of the penis instead of the tip. Children with any of these symptoms are more prone to urinary tract infections.

Limb differences: Many children with VACTERL association have limb differences including extra fingers or toes, webbed fingers or toes, missing or underdeveloped thumbs and underdeveloped forearms.

Other symptoms: Some other more general symptoms of VACTERL association include facial asymmetry, slow growth and abnormally shaped ears.

The long-term outlook for children with VACTERL association – who have received treatment as needed for their specific symptoms – is generally good and most experience typical intellectual development. However, some children with VACTERL may be more prone to chronic health problems into adulthood. The good news is that with the right supportive care, patients with VACTERL can lead happy, productive lives.


We had started to get a better sense of all that was going on in his tiny little body. His genetic testing was negative, so they officially diagnosed him with VaCTERL Association. Teddy was found to have 6 of the 7 criteria. When writing a child’s diagnosis, you capitalize each letter that they are diagnosed with.  So for Teddy, he is diagnosed with all letters except “A” (anal atresia), which we write as lower case. 

Teddy’s Diagnosis:

  • V: Teddy has scoliosis, several hemivertebrae, small right rib cage, some fused discs, and Caudal Regression Syndrome.
  • a: not diagnosed for Teddy
  • C:  Teddy had a large PDA, moderate ASD, several small VSDs, as well as some other differences with his ventricles.
  • T: Teddy had a tracheoesophageal fistula, which meant the lower portion of his esophagus was connected to his airway.
  • E: Teddy was diagnosed with esophageal atresia, meaning his esophagus was not connected at birth. I have written a separate post explaining this diagnosis in detail.
  • R: Teddy was diagnosed with a renal atresia (R), which meant he was born with only one kidney.
  • L: Teddy has anomalies with his limbs, including a club foot, asymmetric growth, and webbed toes.

Thankfully all of Teddy’s diagnoses were not life threatening and many have been repaired or corrected with surgery or growth. He has had multiple surgeries to repair his TEF/EA. He was lucky and his heart was able to repair on its own as he grew. While he may need surgery in the future if his solitary kidney ever fails, for now it is working properly, and he can live his entire life with one kidney. He had casting and surgery to correct his club foot at 5 months old. He also wears AFOs to help support his legs and ankles while walking.  Lastly, while his vertebral and remaining limb anomalies are stable at this time, he may end up needing surgeries in the future to correct and stabilize them if they begin to cause pain or issues.

We are currently in maintenance mode with his associated VaCTERL related anomalies. Teddy sees every specialist there is to include a Pulmonologist, Gastroenterologist, Cardiologist, Urologist, Nephrologist, Orthopedist, plus many many more to manage his other diagnoses. He goes for sedated scopes of his airway and esophagus every two years to ensure there are no changes. He currently has his echocardiograms for his heart every two years, but we are hoping to push those back to every four years soon. We see his orthopedic every 6 months to a year for x-rays and to check his braces. He sees his urologist and nephrologist yearly, to include ultrasounds and blood work, to make sure his kidney is still working well. Plus, a full range of other specialists and procedures I will talk about in future posts. 

We are so thankful all of Teddy’s anomalies have been able to be managed well up to this point.  It isn’t easy and definitely takes a lot of work, but overall, Teddy does so well with all the medical stuff and takes most of it in stride.  He is such a rock star!

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