There are several types of genetic birth defects that occur together. For example, VACTERL. This is a combination or association of 7 diseases. Because it is a combination of diseases, it can affect many body systems.
What exactly is VACTERL? Can this condition be cured?
Definition and Acronym of VACTERL
VACTERL stands for:
V — vertebra (spine)
A — anus
C — cardiac anomalies
T — trachea
E — esophagus or the tube food enters when swallowing ( esophagus )
R — renal anomalies
L — limb differences .
VACTERL association presents differently in each affected person. Not all children will have the same combination of symptoms or the same severity of symptoms. At the very least, children diagnosed with the condition usually have at least three of these characteristic features. Affected individuals may have additional abnormalities that are not characteristic of the condition.
This syndrome is sometimes also called Vater syndrome. It is an abnormality that is present from birth. This condition occurs when various body parts do not form properly in the womb.
VACTERL Symptoms
VACTERL association involves multiple anatomic defects. These defects are congenital and may be obvious at birth (eg, anal atresia, tracheoesophageal fistula and esophageal atresia, radial defects) or may not be recognized until later (eg, cardiac, vertebral, and renal malformations). The combination of malformations can vary greatly from one child to another, and an affected child usually does not have all of the malformations.
Here are some of the most common symptoms, according to The Children’s Hospital of Philadelphia .
Vertebra Anomaly
Some people with this condition have abnormalities or deformities in their spine, sometimes involving the ribs. This can include missing or extra bones, extra ribs, fused bones, abnormally shaped bones or a curvature of the spine, known as scoliosis .
Anomaly of the Anus
The majority of people with VACTERL association have an abnormal anus, including anal atresia or atresia ani (also called imperforate anus) which means the anus opening is missing or blocked. Signs of anal atresia include abdominal bloating, vomiting, and lack of (or light and irregular) bowel movements. Atresia ani may also be accompanied by abnormalities of the genitals and urinary tract (genitourinary anomalies).
Heart Anomaly
Approximately half of children with this association will have some form of heart defect. 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 that prevents blood from flowing normally through the heart.
- Patent ductus arteriosus (PDA) — an abnormal opening in a blood vessel in the heart prevents blood from flowing to the lungs for oxygenation.
- Tetralogy of Fallot — a combination of four heart defects affecting the aortic valve, pulmonary valve and right ventricle
- Transposition of the great arteries — the two main arteries of the heart are reversed
- 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 a heart disorder can include shortness of breath or difficulty breathing, fatigue, blue skin color, abnormal heart rhythm, heart murmur, rapid pulse, and failure to gain weight/lack of appetite.
Tracheal and Esophageal Anomalies
The trachea is more commonly called the throat. Meanwhile, the esophagus or throat is the tube that food passes through when swallowing. Normally, these tubes are not connected in any way, but for children with VACTERL association, they often attach to each other through a fistula (essentially a hole or channel between the two tubes) that allows food to enter the airway.
Teens with Vater syndrome may have other abnormalities, such as esophageal atresia, which means the esophagus ends in a pouch and doesn’t connect properly to the stomach.
Signs of tracheoesophageal involvement include difficulty swallowing (including coughing or choking while eating), aspiration of food into the lungs, bluish discoloration, poor appetite and weight gain, abdominal swelling and vomiting.
Kidney Anomaly
About half of all individuals with VACTERL association have problems with their kidneys. This can take many forms including missing or malformed kidneys, kidneys that are out of place in the body and blocked urine flow. For boys, they may also have hypospadias , where the opening of the urethra is on the underside of the penis rather than at the tip. Children with these symptoms are more susceptible to urinary tract infections.
Differences in Body Parts
Many children with this condition have limb differences including extra fingers or toes, webbed fingers or toes, missing or underdeveloped thumbs and underdeveloped forearms.
Other Symptoms
Some other more common symptoms include facial asymmetry, slow growth and abnormally shaped ears.
Some of the features of this disease association may be subtle and not identified until late childhood or adulthood, making diagnosis of this condition difficult.
Reason
The exact cause of VACTERL association is unknown. Clearly, factors causing widespread malformations must affect early stages of embryonic development. The developmental abnormalities characteristic of VACTERL association develop before birth. The fetal developmental disturbances that cause VACTERL association most likely occur early in development, resulting in birth defects affecting multiple body systems.
This combined defect is a complex condition that may have different causes in different people. In some people, it is likely caused by an interaction of multiple genetic and environmental factors. Several possible genetic and environmental influences have been identified and are being studied.
Risk Factors
There is some evidence that women with diabetes are more likely to have a baby with VACTERL. One or more of these combined defects have occurred with greater frequency in women with diabetes than in the general population. Rarely, the association has been linked to gene changes including duplications or deletions (copy number variations), and mitochondrial dysfunction (mitochondria are cellular structures responsible for energy production in cells).
Frequency of Occurrence
VACTERL association occurs in 1 in 10,000 to 40,000 newborns. Some percentages of sufferers are:
- Defects in the spine (vertebrae) are present in 60 to 80 percent of people.
- Sixty to 90 percent of individuals have narrowing or blockage of the anus (anal atresia).
- Cardiac (heart) defects occur in 40 to 80 percent of individuals.
- Fifty to 80 percent of people have a tracheoesophageal fistula.
- Renal (kidney) anomalies occur in 50 to 80 percent of individuals.
- Limb abnormalities are seen in 40 to 50 percent of people.
Boys are slightly more likely to have this combined defect. However, VACTERL is not more common among certain ethnic or racial groups. Also, having one baby with the condition does not increase your chances of having another baby with the disorder.
Diagnosis
There is no single test for this combination of defects. Currently, the most stringent approach defining the designation of the VACTERL association is a clinical diagnosis based on the presence of the defect and therefore begins with a complete physical examination. Other tests performed will depend on the suspected birth defect. For example:
- X-ray imaging can be used to detect vertebral and extremity anomalies.
- Ultrasound imaging can identify heart or kidney defects.
- Laboratory and genetic tests may be useful to rule out alternative diagnoses.
Importantly, the presence of a single umbilical artery should prompt evaluation for association with VACTERL and other birth defects.
Handling
Because this combination defect varies so much, so does its treatment. The most appropriate treatment depends on the type of symptoms a child has and how severe they are. Most patients can be treated with a combination of surgery, medications, and physical or occupational therapy. Also, occupational therapy to help with self-care and daily tasks.
Surgical solutions are most common for children with structural symptoms (such as anal atresia, esophageal fistula or atresia, heart problems, and vertebral anomalies). Some of these procedures may need to be performed soon after the child is born, while others are treated after symptoms appear. Supportive care such as physical therapy can help manage or reduce some of the symptoms or side effects of the disorder.
Possible Complications
Some children with this condition may be more susceptible to chronic health problems into adulthood, depending on the features they have. According to a study published in the European Journal of Medical Genetics , some of the complications include:
- severe constipation and intestinal obstruction requiring hospitalization
- hearing disorders
- chronic kidney disease
- Acute respiratory infection
- Infertility or infertility
The good news is that with proper supportive care, patients with VACTERL can live happy and productive lives.
Prevention
So far, this combined birth defect condition cannot be prevented quickly. However, sometimes doctors may find the birth defect during a routine prenatal checkup, but this condition is usually found at birth after a physical examination.
Instead, to prevent genetic birth defects, pregnant women should receive vaccinations, adequate intake of folic acid or iodine through staple food fortification or supplements, and adequate care before and during pregnancy.
We hope the information about VACTERL is useful for you!
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Republished with permission from theAsianParent Indonesia
