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VATER Syndrome- Ear Nose And Throat (ENT), Medical Genetics, Nephrology, Orthopedics, Rheumatology, Spinal Surgery

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Congenital (birth) disabilities are getting common globally. In the United States, around one of every 33 newborns encounters birth defects every year. This is approximately 120,000 babies being born with abnormalities.

Birth defects in a newborn can arise due to multiple reasons. Whether it can be genetic or environmental factors, illness in pregnancy that affects the child, or because the body parts of the fetus don't develop properly in the mother's womb (as in vater syndrome), there can be numerous other reasons too.

Vater Syndrome is also one of the birth defects that affect multiple organs of the child's body. However, vater syndrome is a rare disease and is not very common. It affects around 1 in 10,000 to 40,000 babies. Women with diabetes are at a greater risk of having children with vater syndrome.

In this article, we will discuss everything you need to know about vater syndrome.

What Is Vater Syndrome?

Vater Syndrome is also known as VACTERL Association. It is a combination of birth defects that occurs in several areas of the body.

The term VATER is an acronym for Vertebrae, Anus, Trachea, Esophagus, and Renal.

And for the features of the Vacterl association, C stands for cardiac irregularities, and L stands for limb defects. Vater syndrome is when at least any three of these body organs are affected.

Vater syndrome occurs when different parts of the baby's body don't properly develop in the mother's womb, which leads to irregularities in their body organs.

Where Does Vater Syndrome Occur?

As the name indicates, vater syndrome commonly occurs in the vertebrae, anus, trachea, esophagus, renal, heart, or limb areas. The defect doesn't need to occur in all these parts, but any three of these body areas should be affected for the disease to be called vater syndrome or Vacterl association.

What Happens In Vater Syndrome?

As discussed, vater syndrome includes abnormalities in multiple parts of the body. The irregularities in those body parts include:

1. Vertebrae Defects:

The spinal bones (vertebrae) are irregular or missing.

2. Anal Defects:

There is a thin covering on the anus that blocks its opening. Hence, there is no opening at the end of the digestive tract (anus). This condition is called anal atresia.

3. Trachea Abnormalities:

A fistula develops between the trachea and esophagus, a condition known as tracheoesophageal fistula (te fistula). The fistula is defined as the abnormal connection between two body parts.

As a result of the fistula between the trachea (windpipe) and esophagus, food cannot properly pass from the throat to the stomach, which can divert some food into the lungs.

4. Esophageal Defects:

The esophagus (the tube that connects the mouth to the stomach) doesn't have a proper opening or doesn't develop properly (esophageal atresia).

5. Renal or Kidney Defects:

There are defects in the kidneys—for example, poorly developed kidneys or kidney development in the wrong place. Problems in the opening of the penis can occur in baby boys.

6. Cardiac Abnormalities:

There are abnormalities in the heart. For example, a common heart abnormality in the VACTERL association is an atrial septal defect. This is when a hole in the wall of the heart (septum) splits up the atrias (upper chambers) of the heart.

Another cardiac abnormality is the Tetralogy of Fallot, which affects the normal blood flow through the heart. It appears when the baby's heart does not properly develop in the mother's womb during pregnancy.

7. Limb Abnormalities:

The limbs of ther body, for example, thumbs, fingers, toes, or forearms, are missing, extra, or poorly developed.

Diagnosis Of Vater Syndrome

Since vater syndrome doesn't define a single condition or abnormality and is a cluster of body irregularities, the doctor diagnoses it based on the signs and symptoms. You must have at least three or more of the VATER or VACTERL defects to confirm its diagnosis. There is no individual test to diagnose the condition.

Symptoms Of Vater Syndrome

The symptoms of vater syndrome will appear on the three or more of the affected body organs. For example, if a person has vater syndrome in the heart, renal, and limbs area, their symptoms will appear on those organs.

The common symptoms of vater syndrome may include (but are not limited to) the following:

  • Missing, extra, or abnormal bones.
  • The curvature of the spine (scoliosis of dextroscoliosis)
  • Fused bones
  • Extra ribs
  • No or minimal bowel movements
  • Vomiting
  • Swollen abdomen
  • No passage between the rectum and the anus. It is characterized by the inability to pass stool.
  • Fatigue
  • Shortness of breath
  • Fast heart rate
  • Passing of food into the lungs
  • No weight gain
  • Choking and coughing while eating
  • Extra finger or toes
  • Limb abnormalities. Limb defects occur in 70 percent of patients with the VACTERL Association.
  • Slow growth

Which Doctor To Consult?

Since vater syndrome includes several body systems, you may need to consult a few different doctors for its treatment, depending on the affected body areas. For example, you may need to consult an orthopedic (bone specialist) for vertebrae defects, a gastroenterologist (GI tract specialist) for esophageal or GIT defects, or/and a cardiologist (heart specialist) for cardiac abnormalities.

Treatment Options For Vater Syndrome

Treatment for vater syndrome depends on the areas of the body that are affected. It commonly includes medications, physical therapy, occupational therapy, or surgery.

Physical therapies are done to restore body movements and gain strength, and occupational therapy helps in performing everyday tasks and self-care. Surgery is commonly done to correct the irregularities of the body parts. Hence, the treatment of vater syndrome solely depends on the patient's condition and the affected organ.

So, if someone has chronic abnormalities in any of the organs or the limbs, the doctor may recommend surgery. In comparison, mild abnormalities may require medications and physical/occupational therapy or both.

Conclusion

Vater syndrome or VACTERL association is a group of congenital (birth) defects that affects at least three body organs, including vertebrae, anus, trachea, esophagus, heart, kidneys, or limbs. Different types of abnormalities or defects may be found in these organs, varying from patient to patient.

The exact cause of vater syndrome is unknown, but a combination of genetic and environmental factors may be involved. It occurs in early pregnancy when the body organs of the fetus don't properly develop. The condition may be complex but is treatable from surgeries, medications, and occupational therapies.

References:

About the Doctor:

Dr. Fatima Munir is a Doctor by profession, a freelance content writer, and a researcher. With a penchant for research, she diligently curates facts and the latest literature to guide readers on all matters of health.

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