Malformation syndrome refers to various congenital malformations. Several organ systems are affected, which are conspicuous by multiple dysfunctions. The diagnosis can often be made in the womb.
What is malformation syndrome?
Malformation syndrome is a very rare condition. Nevertheless, it has a broad appearance. The syndrome is a combination of multiple malformations. Several organs of the patient are affected at the same time. In Europe, 3 percent of all newborns suffer from embryonic malformation syndrome. 50 to 70 percent of affected embryos are estimated to die intrauterine. The malformation syndrome can be caused by mutation of genes or by viruses. There are approximately 500 different malformation syndromes affecting the kidneys or urinary tract. Others cause problems in other organs such as the heart or liver. For example, some of the best-known malformation syndromes include the following:
- Edinburgh syndrome
- Triploidy
Acrocephalosyndactyly syndromes such as:
- Carpenter syndrome
- Apert syndrome
- Apert-Crouzon syndrome
- Pfeiffer syndrome
- Saethre-Chotzen syndrome
- Fetal alcohol syndrome
- Silver-Russell syndrome
- Paetau Syndrome
- Cri-du-chat syndrome
- Klippel-Trenaunay-Weber syndrome
- Rubella embryofetopathy
- Dzierzynsky syndrome
- Arnold-Chiari syndrome
- Ullrich-Turner syndrome
- Fraser syndrome
- Smith-Lemli-Opitz syndrome
- Edwards syndrome
- Noonan syndrome
- Sotos syndrome
- DiGeorge syndrome
- Holt-Oram syndrome
The malformation syndrome involves abnormalities of various organs as well as body regions. It is striking that the anomalies occur in parallel. In the diagnostic process, the syndrome is usually due to a specific cause.
Causes
Malformation syndromes may arise endogenously via genetic predisposition. In addition, they may also have various exogenous causes. These include viruses, infections, or toxins. Most malformation syndromes that are detected prenatally are based on chromosomal causes. Ultimately, any organ dysfunction that occurs in patients can be traced to a cause. Thus, the malformation syndrome can be clearly distinguished from other organ disorders. These do not have a uniform etiology. Many malformation syndromes caused by genetic defects are inherited in an autosomal dominant manner. Dominant inheritance means that the genetic defect present in at least one parent is automatically passed on to the child. The onset of the disease cannot be prevented because the dominant allele prevails in its trait expression over a recessive allele during the developmental phase of the embryo.
Symptoms, complaints, and signs
The malformation syndrome always affects multiple body regions and organs in the patient. Since there are innumerable syndromes, which can also occur in combination, the symptoms, complaints and signs in the patient are very individual as well as very numerous. Depending on the syndrome present, quite different symptoms occur. Possible are a deformation of the face, disturbances in the development, fused fingers or toes and malformations of the vessels. Likewise, disorders of growth, developmental disorders of the midbrain, eye malformations or inner ear deafness occur. Changes in the dentition, an overlong aorta, a pelvic obliquity or a mental as well as physical developmental delay are also diagnosed in some malformation syndromes. In most cases, visual abnormalities in the face are already prominent in the newborn shortly after birth. In the further course of development, various organ disorders clearly appear in the patient. There is no spontaneous healing or alleviation of the symptoms. The number of symptoms is of such variety that pain and disorders of various kinds cannot be overlooked.
Diagnosis and course
The diagnosis is usually made prenatally. If this is not the case, diagnosis occurs at the latest in early childhood. The failure of the organs leads to various examinations, which then provides more detailed information via methods such as X-rays, hormone and blood values.In the course of diagnosis, a genetic test is carried out to narrow down chromosomal causes. Since symptoms persist and worsen during growth, medical attention should be sought. If left untreated, the malformation syndrome can lead to death due to multiple organ dysfunction.
Complications
The complications of malformation syndrome cannot be universally predicted because they depend greatly on the malformation and its spread. However, in most cases, the patient experiences severe limitations in daily life and living. The quality of life decreases greatly. The malformation syndrome usually affects different organs and can occur on them either individually or on different organs at the same time. This can lead to limitations in hearing and vision, which make the patient’s everyday life more difficult. In some cases, developmental disorders occur due to the malformation syndrome. This disorder can be both psychological and physical, so it is not uncommon for patients to suffer from short stature and other growth disorders. Mental retardation may also occur. Spurred recovery occurs only in very rare cases. Patients with developmental disabilities often suffer from bullying and depend on others to help them in their daily lives. In many cases, treatment can only alleviate the symptoms while not addressing the underlying condition itself. Often, the parents of children with developmental disabilities are also severely affected psychologically and require care from a psychologist.
When should you see a doctor?
If the affected person suffers from malformation syndrome, it must be examined by a doctor in any case and further also treated. In this disease, there is usually no self-healing and in many cases, the life expectancy of the patient is also limited. In order to increase life expectancy, those affected depend on treatment by a medical professional. In most cases, the malformation syndrome is diagnosed before birth or immediately after the child is born. Parents should always consult a doctor with their children if the malformations lead to restrictions in everyday life or impair the child’s development. In many cases, regular check-ups are also necessary to prevent further complications and complaints. If the parents cannot cope with the burden of the malformation syndrome, in some cases an abortion can be performed. Since the syndrome can often lead to psychological upsets or depression, parallel treatment with a psychologist should always take place. Especially the relatives and the parents depend on this treatment.
Treatment and therapy
The treatment and therapy of the malformation syndrome depends on which syndrome is diagnosed. It must be clarified which organs are affected. Then, the severity of the condition is graded so that an individualized treatment and therapy plan can be developed. The individual treatments range from surgical interventions to drug therapy. The aim is always to alleviate the symptoms. A disease of the malformation syndrome cannot be completely cured. In many cases, surgical interventions are required to ensure that the organs are supplied and function properly. This may involve the heart, kidneys or, for example, the bladder. In some syndromes, a transplantation of the bone marrow is performed. This is intended to strengthen the immune system. By placing new functioning immune cells in the organism, they are integrated and the patient may experience permanent relief. Removal of vessels may occur in some circumstances. Likewise, it may be decided that extremities will be adjusted. The administration of medications or hormones is not uncommon. Blood levels are checked regularly to supply the body with missing substances or to check blood sugar levels. The children with the disease usually participate in various early intervention programs in order to support their development well. Psychotherapy is often recommended to help them cope with the symptoms. The relatives are also advised to receive psychological support so that they can cope better with the challenges of everyday life.
Outlook and prognosis
The prognosis of malformation syndrome depends on the individual disorders as well as the severity of the disease. It is considered unfavorable overall despite all efforts. The mortality rate is very high, especially in the first weeks of embryo development. More than half of the diseased fetuses die while still in the womb due to the severity of the organic disorders present. Often, without permanent medical care, the patients are not able to survive even after birth. In the case of less severe malformations, alleviation of the symptoms can be achieved in the further course of development through the scientific and medical possibilities. The treatment is based on the particular symptoms and is worked out specifically on the basis of the patient’s needs. Programs of early intervention, good care and therapies help in the optimal development of the child. In surgical interventions, as far as possible, the resulting mutations are corrected. Other anomalies can be treated by organ transplantation or insertion of artificial aids. A cure for the diagnosed syndrome has been ruled out so far. However, symptomatic treatment can be very successful in many patients. The affected person will nevertheless have lifelong impairments and must undergo regular examinations. Vulnerability to the development of other diseases is increased. Lifespan is decreased in most types of malformation syndrome.
Prevention
Diagnosis is possible during pregnancy in Germany. It is considered a possible indication for abortion (§218a StGB). Expectant parents are informed about the theoretical life expectancy and learn more about expected problems of the surviving child.
Follow-up
As a rule, the options for follow-up care are extremely limited in the case of a malformation syndrome. In this context, a complete cure is also not possible, since the malformations are usually hereditary. Therefore, only a purely symptomatic and no causal treatment is possible. Furthermore, however, if the affected person wishes to have children, genetic counseling can be performed in order to possibly prevent the syndrome from being passed on to the descendants. However, a self-cure cannot occur in this case. It is also not possible to universally predict whether the life expectancy of the affected person is reduced by the malformation syndrome. In most cases, those affected are dependent on intensive care and permanent support from their parents and family. Above all, loving and intensive care has a positive effect on the course of the disease and can prevent complications. Furthermore, regular examinations by doctors are also necessary in order to detect and treat damage to the body and internal organs at an early stage. In the case of psychological upsets or depression, discussions with friends or family are also very helpful in alleviating these symptoms. Contact with other people affected by the syndrome can also be useful.
This is what you can do yourself
The options for self-help are very limited for a malformation syndrome. The syndromes are considered incurable with current medical options. In everyday life, emotional stabilization of the patient as well as the relatives is necessary for dealing with the malformation syndrome. Due to the disease and the multitude of complaints, the psychological burden is very high. Joint activities and individual leisure time activities are important to promote well-being. With a healthy lifestyle, a balanced diet and sufficient exercise, the patient’s quality of life can be improved. The available options are to be adapted to the respective malformation syndrome and should be aimed at promoting the self-esteem of the affected person. If visual blemishes are to be covered up, this can be done with clothing or accessories. It is helpful to be open about the disease and to tell people in your immediate environment about the symptoms and effects of the malformation syndrome. Relatives as well as sufferers can use relaxation techniques to build up their mental strength for the challenges of everyday life. Methods such as yoga or meditation help to establish an inner balance. In addition, conversations and exchanges with other sufferers help.Tips and advice can be exchanged in self-help groups or forums. Existing fears or experiences are discussed and can contribute to relief.
