VATER syndrome is a group of congenital abnormalities that frequently co-occur. As a “non-random relationship,” it’s not a sickness in and of itself. “VATER” stands for vertebrae (the spine), anus (the ear), trachea (the windpipe), esophagus (the stomach), and renal (the kidneys) (kidneys). It is not necessary for a child with VATER syndrome to have all these problems, but at least three must exist to be identified.

The syndrome is known as the VACTERL association when it involves cardiac (heart) and limb abnormalities.

Symptoms

A variety of congenital defects make VATER syndrome unique in that its symptoms can differ from person to person. Common symptoms include:

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Vertebral anomalies: Atypical curvature of the spine, deformed vertebrae or ribs, or the absence of a tailbone are found in 60% to 80% of VATER syndrome children. Many of these abnormalities can be seen by parents and confirmed by a physical checkup and imaging tests.

Anal atresia: An atresia occurs when a thin membrane blocks the anus, limiting bowel motions. VATER syndrome affects between 55% and 90% of children.

Tracheoesophageal fistula (TEF): It is possible to have an improper connection between the trachea and the esophagus, which can lead to a wide range of health issues, including breathing difficulties, difficulty swallowing, and infections in the respiratory system. TEF affects between 50% and 80% of children with VATER syndrome.

Renal abnormalities: Children with VATER-associated renal anomalies often have underdeveloped or deformed kidneys, as well as a misplaced urethral opening and urine backflow. A kidney or urinary tract malformation affects 50 to 80 percent of children with VATER syndrome.

However, VATER is not connected with brain abnormalities or intellectual disabilities. As a result, when children reach maturity, they usually have a normal level of intelligence and are capable of supporting themselves.

Causes

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VATER and VACTERL are associated with a wide range of birth abnormalities, but it’s not obvious how they’re related. According to many specialists, early-pregnancy genetic abnormalities that appear to interfere with normal baby growth may be to blame.

Approximately one in every 10,000 to 40,000 children suffers from the disease. Diabetic women are more likely to give birth to children with VATER or VACTERL than non-diabetic mothers for unknown reasons.

Diagnosis

Medical tests are unable to definitively identify or rule out VATER syndrome due to the lack of a recognized disease process. VATER or VACTERL syndrome cannot be predicted or diagnosed using genetic tests at this time.

A physical exam and the findings of specialist organ-specific testing, such as X-rays to identify vertebral anomalies or renal ultrasound to detect kidney malformations, are used to conclude the patient’s condition. Obstetric ultrasonography, a type of imaging technology, can be used to make a diagnosis while the child is still inside the mother’s womb under some circumstances.

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A kid must show anomalies in at least three of the typical organ systems to be diagnosed with VATER.

A youngster with major cognitive difficulties would not be identified with VATER syndrome because the syndrome does not affect intellectual performance. Instead, additional disorders with intellectual disability would be looked at as possible candidates.

Treatment

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VATER syndrome treatment differs from person to person. Some children will have major medical issues for the rest of their lives, while others will grow up to be healthy, happy people with fewer, if any, medical issues to deal with.

VATER treatment is tailored to the specific needs of each individual diagnosed with the disease. In the case of organ and limb anomalies, surgery may be an option in some cases, while other treatments, such as drugs and physical therapy or occupational therapy, may be necessary for others.

Many VATER children will have physical difficulties when they become older and start attending school. For example, they may have trouble walking, exercising, or executing fine motor activities.

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VATER is not a mental illness, as is commonly believed. The intellectual demands of school should not be too much of a problem for most youngsters with VATER.

In addition to speaking with your physician about VATER syndrome, the National Center for Biotechnology Information and pediatric specialty institutions like Cincinnati Children’s can direct you to other specialists in the field.