Introduction:
VATER, also called VATER association, is an acronym that refers to the body parts formed improperly during fetal development. This occurs due to a growth abnormality or birth defect at the initial stage of pregnancy.
What Is Vater Syndrome?
Vater syndrome refers to a combination of disorders seen in the initial periods of pregnancy (during embryo development). All the cases of Vater syndrome vary from each other. Vater is an acronym that represents the affected body parts. VATER stands for:
V: vertebrae (spinal bones).
A: anus.
TE: tracheoesophageal (trachea and the esophagus).
R: renal.
If the heart (cardiac) and the limbs are also affected by this disorder, it is called VACTERL.
How Is Vater Syndrome Caused?
The doctor cannot yet determine the exact causative factor for VATER association. The defects are believed to occur early in pregnancy, at the time of embryo development.
But it is not a hereditary condition. A few genes, their combination, and some environmental factors can contribute to this disease. In a few cases, it was observed that women having diabetes have babies affected by this syndrome.
What Are the Symptoms of Vater Syndrome?
Vater syndrome is a growth defect affecting certain body parts, namely vertebrae, anus, trachea, esophagus, renal, heart, and limbs. Therefore its symptoms depend on the functioning of these body parts. Around 80 percent of the people with VATER association have deformities in the bones of their spine (vertebrae). These problems are :
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Missing bones in the spine.
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Presence of extra bones in the spine.
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The presence of abnormally shaped bones.
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Bones that are fused.
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Curved spine (scoliosis).
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Presence of extra ribs.
Around 60 and 90 percent of people with VATER association have an issue with their anus. These are:
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Presence of a thin covering over the anus that blocks the opening
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The passageway between the bottom of the large intestine (rectum) and the anus is not present; thus, the stools cannot pass out from the body. These issues with the anus can result in the following:
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A swollen belly.
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Either no or very few bowel movements are present.
Cardiac Issues:
The "C" in VACTERL refers to "cardiac." Heart issues affect around 40 to 80 percent of people with this disorder. These issues are:
1. Ventricular Septal Defect (VSD): In this condition, a hole is formed in the wall, responsible for dividing the right and left lower chambers of the heart (ventricles).
2. Atrial Septal Defect: This defect occurs when a hole in the wall divides the upper two chambers of the heart (atrium).
3. Tetralogy of Fallot: This defect is a combination of four kinds of heart defects: VSD, in which the enlargement of the aortic valve occurs (overriding aorta), narrowing of the pulmonary valve (pulmonary stenosis), and thickening of the right ventricle (right ventricular hypertrophy) take place.
4. Transposition of the Great Arteries: The two main arteries out of the heart are backward (transposed). Symptoms of heart problems include:
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Trouble while breathing.
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Shortness of breath.
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Bluish color of the skin.
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Fatigue.
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Heart rhythm becomes abnormal.
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Tachycardia (fast heart rate).
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Heart murmur (whooshing sound).
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Reduced appetite.
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No weight gain.
Trachea and Esophagus Issues:
Tracheoesophageal fistula: Fistula is an abnormal link between the trachea (windpipe) and the esophagus. It intervenes with the passage of food from the throat to the stomach, diverting some part of the food into the lungs. Symptoms include:
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Coughing or choking while feeding.
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Vomiting
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Poor weight gain
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Respiratory infections.
Renal Issues:
Around 50 percent of people with VATER syndrome have kidney deformities. These are listed as:
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Improper formation of a kidney or both kidneys.
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Presence of kidneys in the wrong place.
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Obstruction of urine to pass out of the kidneys.
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Backup of urine from the bladder into the kidneys.
Kidney defects can result in frequent UTIs (urinary tract infections). In males, a defect in the opening of their penis is also seen sometimes on the bottom instead of at the tip (hypospadias).
Limb Defects:
Around 70 percent of babies with VACTERL syndrome have limb deformities. These can be listed as:
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Missing or improper development of thumbs.
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Extra fingers or toes (polydactyly).
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Webbed fingers or toes (syndactyly).
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Underdeveloped forearms.
Other Symptoms:
Other, more general symptoms of VATER association include:
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Retarded growth.
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Unable to gain weight
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Facial features are uneven (asymmetry).
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Defects in the ears.
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Effective lungs.
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Problems associated with the vagina or penis.
An essential factor is that Vater syndrome or its association does not affect the child's learning ability or intellectual development.
How Is Vater Syndrome Diagnosed?
Vater syndrome can be diagnosed while examining the fetus at the time of pregnancy or in infancy. If the symptoms are not noticeable in childhood, they can be diagnosed in adulthood.
The diagnosis can be made by:
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Physical examination: The doctor takes a thorough look at the patient. Most of the if the affected part, like limb deformities, is visible, he may advise further investigations.
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X-Rays:X-rays are done in cases where the deformities are not physically visible, like heart, kidney, etc.
How Is Vater Syndrome Treated?
The treatment of Vater syndrome is primarily done to reduce its symptoms due to improper formation of the body parts during fetal development. These treatments vary from person to person as per the part of the body affected. Some of the treatment options are:
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Physical or occupational therapy for the improvement of strength of the muscle and range of motion.
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Medications to treat the symptoms.
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Surgery is suggested when the options mentioned above cannot be treated.
Conclusion:
Vater syndrome is a disorder in which different body parts are affected. This occurs at the time of formation of the fetus. It is called Vater as it affects the vertebrae, anus, trachea, esophagus, and renal system, and is called Vecteral when it affects the cardiac (heart) and limbs. This syndrome shows various symptoms depending on the part affected and is treated accordingly.
