The VACTERL association is a complex of various malformations resulting from developmental disorders caused by external factors. In many cases, the defects are incompatible with life and the children are stillborn. The treatment of the milder form of VACTERL is mainly surgical.
What is a VACTERL association?
The malformation syndromes in newborns are an extraordinarily wide-ranging group of diseases, which mostly consist of a symptomatic combination of different malformations. One such combination of different malformations is the VACTERL association. This designation is an acronym. The V stands for vertebral anomalies, which correspond to malformations of the spine. For skin diseases meaning, please visit phonejust.com.
The A refers to the patient’s anal and auricular malformations, which usually correspond to an obstruction of the rectum. The C stands for the heart defect in the sense of a ventricular septum defect, which can occur as part of the syndrome. The T is associated with the tracheo-esophageal fistulas, which create a connection between the trachea and the esophagus of sufferers.
The E refers to esophageal atresia and thus to an esophageal occlusion. The R abbreviates the renal malformations of the kidneys and the L stands for limb malformations, i.e. malformations of the limbs. The term VATER syndrome is used synonymously with the acronym VACTERL association. A little over ten percent of all stillbirths are associated with the VACTERL association.
A prevalence of around 1 in 10,000 – 40,000 is given for the VACTERL association. The affected children usually do not have all of the above-mentioned malformations at the same time. If three of the malformations are present, there is already talk of the VACTERL association. The symptom complex arises on the basis of embryonic development disorders.
The malformations affect male children in between 56 and 67 percent of cases. The risk of recurrence for each subsequent pregnancy of affected parents is not even one percent. The possible inheritance apparently takes place in the autosomal recessive mode of inheritance. If the brain is also affected by malformations, there appears to be an X-linked recessive inheritance. VACTERL appears to be entirely sporadic in a majority of cases.
Instead of genetic factors, exogenous factors are therefore increasingly assumed to be the cause of developmental disorders. According to speculation, for example, maternal diabetes mellitus can disrupt the differentiation of the mesenchymal connective tissue up to the 30th day of development.
Symptoms, Ailments & Signs
Newborns with VACTERL association suffer from at least three of the characteristic malformations. In around 80 percent of cases, these malformations include vertebral anomalies, which are often associated with rib anomalies. Up to 90 percent of patients are also affected by an imperforate anus or anal atresia.
Between 40 and 80 percent also have a cardiac defect and about the same proportion are affected by tracheoesophageal fistulas, which are usually associated with esophageal atresia. Kidney malformations such as a missing kidney, horseshoe kidneys or cystic and dysplastic kidneys occur in 50 to 80 percent of cases.
Approximately half of all those affected have malformations of the limbs. Classically, the defects of the extremities correspond to radial malformations such as thumb aplasia or hypoplasia. The malformations and their combination are the key components of the association. However, many patients have other malformations, such as brain defects.
Diagnosis & course of disease
When diagnosing the VACTERL association, the doctor must use differential diagnostics to rule out many other malformation syndromes, such as trisomy 18, 18 and Potter’s sequence. Depending on the deformities present, this can be a difficult task. Under certain circumstances, the anamnesis and knowledge of the presence or absence of family dispositions for clinically similar hereditary diseases can help in the differential diagnosis.
Prenatal diagnosis via sonography is a rather rare circumstance for the VACTERL association. Despite the possibility of prenatal amniocentesis with a karyogram or FISH, the diagnosis is usually made postnatally via visual findings, sonography, echocardiography or an ECG, EEG and X-ray findings. Extensive sensory testing is also part of postnatal diagnosis. The prognosis for the patients varies depending on the malformations in the individual case. While some malformations are associated with a lethal course, others can be combined with life.
In the VACTERL association, patients suffer from a number of different malformations and malformations. These have a very negative effect on the quality of life of those affected and reduce it enormously. Most patients are therefore always dependent on the help of other people in their lives and can no longer master everyday life on their own. The absence of a kidney can also lead to considerable symptoms and, in the worst case, to the death of the person concerned.
Malformations also occur on the fingers or hands, which can make everyday life difficult for the patient. Furthermore, the VACTERL association can also lead to defects in the brain. Hydrocephalus can cause intellectual disability in people with VACTERL-H. In contrast, people with VACTERL generally have no brain malformations and no cognitive impairments either. Parents and relatives are also affected by the VACTERL association with psychological complaints and often suffer from severe depression.
Since only the symptoms of the VACTERL association can be treated, no further complications arise. Some of the symptoms can be reduced with the help of medication and various therapies. However, those affected need treatment throughout their lives. The disease may also reduce the patient’s life expectancy.
When should you go to the doctor?
In the case of the VACTERL association, the person affected is usually always dependent on a visit to a doctor, since this disease cannot heal on its own. The earlier a doctor is consulted, the better the further course, so that a doctor should be contacted as soon as the first symptoms or signs of the disease appear. If the parents or the patient wish to have children, genetic counseling can also be carried out to prevent the VACTERL association from reoccurring.
A doctor should be contacted for this disease if the affected person suffers from anal tresia. In most cases, fistulas occur in the area of the anus. Heart problems can also indicate the disease, and those affected also suffer from congenital malformations of the extremities. A missing kidney can also indicate this disease.
The diagnosis of the VACTERL association is made by a pediatrician or by a general practitioner. Whether and how the disease can be treated depends heavily on the severity of the symptoms, so that a general prediction is usually not possible. In some cases, the life expectancy of the affected person is also reduced due to the VACTERL association.
Treatment & Therapy
A causal therapy is not available for patients with the ACTERL association. Even in the near future there will be no causal therapy, since the malformation complex is not due to genetic but to external factors. However, once these factors are known, the complex may be preventable. Patients are treated purely symptomatically.
Since the symptoms are malformations, the treatment consists mainly of surgical interventions to correct the malformation. Treatment planning is critical and depends heavily on the overall constitution of the newborn. In particular, cardiac malformations and symptoms such as esophageal atresia must be treated surgically as quickly as possible in order to increase the patient’s chances of survival.
If there are several severe malformations of critical quality and if the patient’s general constitution is poor, timely correction is often not possible. In such cases, the parents of those affected are treated supportively within the framework of psychotherapeutic accompaniment. In many cases, defects in the limbs, spine and intestines are the easiest to correct.
If a VACTERL association is suspected, genetic counseling should always be carried out. Other preventive measures are not available because the external factors that lead to the development of the disease are not yet known in detail.
Since a VACTERL association is not fundamentally curable or treatable, but only the individual malformations of the bones, anus, heart, esophagus, kidneys and limbs resulting from the VACTERL association can be treated, the follow-up treatment is also based on the VACTERL Association resulted in malformations.
If there are deformities in the limbs, the follow-up treatment for those affected should be geared towards learning to live with the resulting physical disability. In some cases, lifelong care may be necessary. Psychotherapy can also help to live with the disability.
If there were heart and/or kidney defects, lifelong medical follow-up care must be provided in order to be able to identify and treat organ problems at an early stage. In addition to regular monitoring of the organ values in the blood, this should also include regular imaging (ultrasound, MRI, CT) of the kidneys and heart.
If there were malformations in the anus and/or esophagus, both must also be examined regularly by a doctor in order to be able to identify potential secondary diseases at an early stage and take countermeasures. In the case of a congenital fistula between the esophagus and trachea, regular imaging (CT, MRI) of the area should also be carried out in order to be able to detect and treat the development of a new fistula or complications at the scarred area early on during the course of growth.
You can do that yourself
The VACTERL association is treated purely symptomatically. Therapy and accompanying measures are based on the respective malformations. After surgery, the child must be rested. General measures such as rest, comprehensive wound care and regular consultations with the doctor apply. In the case of a cleft lip and palate, the affected child must undergo speech therapy training. Breathing training may be necessary for choanal atresia.
Due to the large number of malformations, physical limitations always remain. Life often has to be completely adapted to the child’s illness. This includes an apartment suitable for the disabled as well as accompanying therapy. The child can be informed about his illness at an early stage. This often leads to a better understanding of the disease, which also improves the prospect of a happy life.
Lastly, children suffering from the VACTERL association should be monitored constantly. This is necessary because of the high risk of accidents and falls that patients are exposed to due to the deformities. Although the disease can only be treated symptomatically, suitable accompanying therapy can enable the children to lead a relatively symptom-free life without major restrictions in everyday life.