You may be very worried when the doctors tell you that your new baby has suddenly developed some changes or defects in several parts of his body. Perhaps the scans done before the baby was born gave you a hint about something like this. This is the condition we are going to talk about today, VATER Syndrome, or VACTERL Association. Don't worry, let's understand this simply.
What is VATER Syndrome / VACTERL Association?
Simply put, VATER syndrome is a group of birth defects that occur early in a baby's development. Specifically, these problems occur during the first few weeks of a baby's embryo's development. The condition can vary from one baby to another. Not every baby will have the same symptoms. Doctors suspect the condition when there is a problem with at least three of the body parts usually represented by the letters VATER.
What do these letters VATER / VACTERL stand for?
This is actually an acronym. That is, a word formed by combining the first letters of the English names of the body parts affected by this condition. It was originally called VATER:
- V - Vertebrae : This means the small bones (vertebrae) in the spine .
- A - Anus : That means the anus .
- T - Trachea : That means the windpipe .
- E - Esophagus : That means the food pipe.
- R - Renal : This means kidney problems.
Later, as problems in two other body parts could be seen with this condition, the acronym was extended a bit to VACTERL:
- C - Cardiac : This means heart -related problems.
- L - Limbs : This refers to problems related to the limbs (especially the radius bone on the side of the big toe).
Do you understand what VACTERL means? This condition is when several of these parts have certain defects at the same time.
Who can be affected by this VACTERL condition?
VACTERL can affect anyone. It is not hereditary. This means that it usually only affects one family member. Although the exact cause is not yet known, it is believed to be caused by a combination of genetic influences and environmental factors during pregnancy.
In terms of how common this condition is, it affects about one in 10,000 to 40,000 newborns. However, this number may be higher, as some children have very mild symptoms, or only a few symptoms.
What are the symptoms of VACTERL syndrome?
The symptoms are mainly seen in the body parts represented by the letters VACTERL that we talked about earlier. Some of these symptoms are visible at birth (congenital) , while others may appear later. These symptoms can vary greatly from one child to another. Let's now look at each of these parts in relation to each part.
Spine (Vertebrae) Problems
The spine is a very important part of our body. In VACTERL, there may be some changes in the way this spine develops.
- Curvature of the spine to one side ( scoliosis ).
- Malformation of the vertebrae (spine) (e.g., hemivertebrae , fused vertebrae ).
- Loss of tailbone.
- Abnormalities of the ribs (missing ribs, having an extra rib, ribs that are stuck together or split).
Imagine how something like this could affect a child's posture and movement when it happens to the spine.
Anal (Anus) Problems
Some children with this condition may not have a fully formed anus. This means that the opening through which stool comes out may be very small or in the wrong place. This is also called anal atresia . This makes it difficult for the child to have a bowel movement.
Cardiac problems
Heart problems can be quite serious. In VACTERL, there can be various problems with the way the heart is formed and how it works.
- The major blood vessels (aorta and pulmonary artery) are displaced.
- Holes between the atria of the heart ( atrial septal defects (ASD) ).
- Fast heartbeat ( tachycardia ).
- Heart failure.
- Underdevelopment of the left heart chamber ( hypoplastic left heart syndrome ).
- Rapid breathing and/or chest tightness.
- Complex heart diseases like Tetralogy of Fallot .
- Holes between the chambers of the heart ( ventricular septal defects (VSD) ).
Some of these heart diseases can be life-threatening. However, some holes, such as ASD and VSD, may close on their own over time.
Trachea and Esophagus Problems
A common condition seen in VACTERL is that the trachea and esophagus are not connected where they should be ( tracheoesophageal fistula ). Or, the esophagus is not properly connected to the stomach ( esophageal atresia ). This is because:
- Difficulty drinking milk and eating.
- Respiratory tract infections (e.g. pneumonia ).
- Difficulty swallowing.
- Difficulty breathing may occur.
Just think, if there's a misalignment between the food pipe and the breathing pipe, food and drink can go into the lungs, right? That's dangerous.
Renal problems
Kidney and urinary system problems can also be seen in this condition.
- Abnormal location of the urethral opening (especially in boys - Hypospadias ).
- Kidneys not developing properly ( renal dysplasia ).
- Kidneys in the wrong place ( renal ectopia ).
- Urine flowing back from the bladder to the kidneys ( vesicoureteral reflux ).
- Accumulation of urine in the kidneys ( Hydronephrosis ).
- Frequent urinary tract infections.
Limbs & Radius Problems
In VACTERL, problems can be seen in the limbs, especially in the radius bone on the big toe side of the hand.
- Complete loss of the radius bone ( radial aplasia ).
- Radial bone does not develop properly ( radial hypoplasia ).
- Loss of the big toe.
- Having an extra bone in the big toe (Triphalangeal thumb ).
In addition, problems like these can be seen in other limbs (in addition to the radius bone):
- A deformity of the ankle ( clubfoot ).
- Inability to use some fingers properly, being small ( hypoplasia ).
- Having extra fingers ( polydactyly ).
- Fusion of the two bones of the forearm ( radioulnar synostosis ).
- Fingers stuck together (like a membrane - syndactyly ).
Other symptoms that can be seen in addition to the name VACTERL
In addition to the parts pronounced with the letters VACTERL, some other characteristics can also be seen in these children.
- Abnormal shape of the ears.
- Asymmetry of both sides of the face.
- Difficulty breathing through the nose ( choanal atresia ).
- Spinal cord is trapped in one place (tethered spinal cord ).
- Growth is slower than normal.
- Omphalocele (protrusion of the intestines outside the body).
- Narrowing of the voice box/ larynx .
Important: Not all of these characteristics are present in every child. Some children may have only a few of them. Also, even the same characteristic may be different in one child than in another.
What is the reason for the formation of the VACTERL collection?
In fact, the exact cause of VACTERL syndrome has not yet been found. This is still being researched. However, the current opinion is that this condition may be caused by a combination of several genetic and environmental factors that affect the development of the fetus during the early stages of pregnancy. That is, there may not be a single cause, but several causes together.
How to identify the VACTERL collection?
VACTERL syndrome is usually diagnosed during prenatal exams or early in life. However, sometimes the symptoms are not so obvious, so it can be diagnosed in childhood or even young adulthood.
VACTERL syndrome is a "diagnosis of exclusion." This means that doctors first rule out all other diseases and conditions that could cause similar symptoms. Only when none of these conditions are found do they consider VACTERL a possible cause.
A doctor will first do a complete physical examination. This will check for birth defects in at least one of the body parts that are spelled with the letters VACTERL that we discussed earlier. Often, a child with VACTERL will have these problems in at least three body parts .
After the physical examination, the doctor will order further tests (e.g. X-rays , ultrasounds , blood tests). These are done to pinpoint any life-threatening problems, especially those of the heart and kidneys, so that they can be treated quickly.
What are the treatments for VACTERL syndrome?
When treating VACTERL syndrome, the main focus is on reducing the symptoms caused by these malformations in the body during the embryonic stage. Treatment methods vary from one child to another. This is because not all children have the same problems. The main treatments are:
- Surgery: Surgery is needed to correct these malformations. Sometimes, this surgery is done within a few days of the baby's birth, before major complications occur. As the baby grows, more surgeries may be needed.
- Physical therapy or occupational therapy: These treatments help strengthen muscles and improve joint movement.
- Medicine: Various types of medications can be given to control and reduce symptoms.
How do you care for a child with VACTERL syndrome?
Finding out that your child has VACTERL syndrome can be a difficult experience. But remember, you are not alone. Your child will need ongoing medical care and monitoring to manage symptoms throughout their life.
As the person taking care of the child, you have a big responsibility.
- Always be aware of your child's health and development. Check to see if your child is reaching developmental milestones appropriate for their age (e.g., head-holding, rolling over, sitting, walking).
- Stay in touch with the doctors who are treating your child. A child with VACTERL usually needs the help of several specialists (e.g., pediatrician, cardiologist, surgeon, nephrologist). Maintain a good relationship with all of them.
- Some families find genetic counseling very helpful. It can help them learn more about their child's condition, discuss treatment options, and gain the mental strength they need to face this challenge.
Can VACTERL syndrome be prevented?
Since the exact cause of VACTERL syndrome is not yet known, there is no way to prevent it. Research is ongoing to determine what causes the condition and what risk factors are present in new parents.
What kind of expectations can someone with VACTERL syndrome have?
During pregnancy, talk to your doctor about how you and your baby can stay healthy. Genetic testing and prenatal care can detect some VACTERL traits before your baby is born. Doctors can then prepare to start treatment as soon as your baby is born.
After the baby is born, doctors first check to see if the baby is healthy enough to treat any life-threatening symptoms. Treatment may be needed throughout life, as new symptoms may appear or old symptoms may change during childhood and adolescence.
There is no cure for VACTERL syndrome. However, with proper treatment and management, the child can be helped to live a relatively good life.
When should you see a doctor?
If your child has symptoms of VACTERL and they are interfering with their daily activities or development, be sure to see a doctor.
When to go to the emergency room:
- If the baby's heartbeat is irregular.
- If you don't eat food or drink milk.
- If you have difficulty breathing.
- If you are unable to defecate or urinate.
In a situation like this, don't delay even a little bit.
What questions should you ask your doctor?
It's normal to have many questions when you learn about your child's condition. Don't be afraid to ask your doctor everything you can. Here are some examples:
- Does my child need surgery?
- What are the side effects of the treatments you recommend?
- What should I do if my child is not reaching developmental milestones?
- How to care for a newborn baby after surgery?
In addition to these questions, ask anything you have on your mind. The doctors are here to help you.
Finally, things to remember
Newborns have a number of birth defects, so it's normal to feel stressed when you find out you won't be able to take your baby home soon. But remember, a team of specialist doctors will do their best to provide your baby with the necessary treatment and eliminate any potentially life-threatening symptoms.
Many parents and caregivers find great comfort and knowledge in services like genetic counseling after a diagnosis of VACTERL syndrome. So, don't hesitate to seek help from such a service. With proper medical treatment, love, and care, you can definitely help your child live the best life possible.
` VATER syndrome, VACTERL association, congenital abnormalities, birth defects, baby health, child health, embryonic development, vertebrae defects, anal atresia, heart defects, tracheoesophageal fistula, renal defects, limb defects, Sri Lanka
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