Dysraphia syndrome is a collective term under which various congenital malformations are subsumed. Qua definition, such dysmorphias are to be subsumed under the term, which are congenital and present themselves as a consequence of a defective anlage of the spinal cord or a raphe formation (disturbance of the closing process).
What is dysraphia syndrome?
The medical term “dysraphia” comes from the Greek. It is composed of ραφή (pronounced: “raphe”) for suture and the prefix dys, which stands for deviations from the norm. Dysraphia is the term used for various malformations (known as “dysmorphia” in the professional world) that can be traced back to a defective anatomy of the spinal cord or a raphe formation. The so-called raphe perinei, which is often formed deviating from the norm in a dysraphia syndrome, is an anteroposteriorly running connection of the genital folds. Typically, dysraphia is a congenital dysmorphia. Accordingly, the term is used to describe various conditions that are associated by very similar symptomatology.
Causes
The cause of dysraphia is usually a defective closure of the neural tube in the area of the skull, spinal cord, or spine. The neural tube forms the basis of the still-forming central nervous system (CNS) in an embryo. In individuals affected by dysraphism, contrary to the norm, the neural plate did not close into a tube during the embryonic stage of development, but often remained fully or partially open until the completion of birth. This results in various obstructions to the supply of nerves below the unclosed or inadequately closed level. It has been reported in the literature that affected newborns have skin lesions, malformations of the extremities (especially legs and arms), and curvatures of the spine. In addition, it has been found that the likelihood of such malformation is substantially increased when the pregnant mother is deficient in folic acid.
Symptoms, complaints, and signs
The exact symptoms depend on the particular manifestation of the dysraphia syndrome, which is why never all of the symptoms listed below will be present at the same time.
- The appearance of spina bifida is typical. This is a closure disorder of the spinal column. It is considered a neural tube defect and is therefore included in the dysraphia syndrome. An incomplete closure of the posterior vertebral arches is called spina bifida occulta, whereas spina bifida cystica is additionally a spinal cord herniation.
- Possible symptoms of dysraphia are also various deformities of the foot. Here, depending on the specific formation of the deformity, a distinction is made between pes planus (flat foot), pes equinovarus (also known as clubfoot in layman’s terms), pes valgus (bent foot) and pes varus.
- Other symptoms are malformations of the individual vertebrae such as wedge vertebrae malformations or deformed hemivertebrae. These are often accompanied by scoliosis and kyphosis.
- In addition, the appearance of a four-finger furrow is also a sign of dysraphia. Here occurs an unusual furrow in the hand.
- In addition, a funnel chest, in which a funnel-shaped retraction of the thorax is recorded, is also one of the typical complaints. In the human medical literature is then spoken of a pectus excavatum.
- Furthermore, hypertrichosis, clefts in the palate, mouth and throat, bladder weaknesses, mental disorders such as antisociality and oligophrenia, the formation of a rectum and neurologically induced disorders of sensitivity, motor function or trophism are also conceivable symptoms that can be attributed to a dysraphia.
Diagnosis
Because dysraphia becomes apparent during the development of the human embryo, diagnosis can be made early. Accordingly, the first therapeutic steps can often be initiated shortly after birth. In particular, deformities of the foot can already be treated in newborns by simple redressment or the application of a fixed cast, so that the need for surgery does not arise in the first place.In the majority of cases, the diagnosis can already be made after a mere visual inspection of the affected person (visual diagnosis). However, this initial finding is usually confirmed by further tests and examination methods such as X-rays, MRI or CT. Depending on the symptom, a comprehensive neurological examination, reviews of muscle resilience and function, or sonography may also be indicated. Because dysraphia syndrome is a congenital dysmorphia, no improvement occurs without therapeutic measures.
Complications
In dysraphia syndrome, the patient suffers from various malformations that are already congenital. In most cases, a defective attachment to the spinal cord is responsible. The complications vary greatly and depend greatly on the severity of the dysraphia syndrome. Often, however, there is an occlusive disorder of the spinal cord. Malformations of the feet may also occur. In many patients, the chest is also damaged in the form of the so-called funnel chest. Bladder weakness and sensory disturbances also occur. The deformities severely restrict the patient’s everyday life and quality of life. Often there are psychological complaints due to the malformations, because the affected person is not satisfied with his appearance. The mental deforestation is usually not affected, although in many cases there are mental disorders. Aggressive behavior may also occur. Specific treatment of the syndrome is not possible, which is why various therapies are used to alleviate the symptoms. Certain malformations can also be corrected surgically. In this case, there are usually no particular complications. The parents also often suffer from psychological problems.
When should one go to the doctor?
Due to dysraphia syndrome, affected individuals may suffer from a number of different malformations and deformities. In most cases, these are detected immediately after birth, so no additional diagnosis is necessary. The affected person should see a doctor if the malformations cause difficulties and various complaints in everyday life. The earlier the symptoms are treated, the higher the probability of a complete recovery. The doctor should also be visited when there are disturbances in sensitivity or bladder weakness in the patient. Due to the high number of malformations, regular examinations should also be performed in order to avoid complications at an older age. This also allows the development of the child to take place without restrictions. Furthermore, the dysraphia syndrome can also lead to bullying or teasing, so a psychologist should be consulted in these cases. Diagnosis and treatment of dysraphia syndrome is usually done by a pediatrician and by various other specialists.
Treatment and therapy
Treatment of dysraphia syndrome is usually oriented toward control or relief of symptoms. Basically, surgical interventions, physiotherapies and physiotherapy can be considered in addition to medication for pain. Shortly after birth, the human body is usually still somewhat malleable, so conservative treatment methods such as the application of splints or casts may already be sufficient. However, the majority of dysraphia can only be treated by corrective surgery. These can be performed under local or general anesthesia, depending on the type and severity of the procedure.
Outlook and prognosis
Because dysraphia syndrome is a series of broad congenital malformations, they can no longer be treated causally. Only symptomatic treatment is available to affected individuals, which can restore quality of life and significantly limit symptoms. If no treatment is available, the patients suffer from considerable limitations in everyday life due to malformations of the entire body. Those affected have a clubfoot, and there may also be bladder weakness and sensory disturbances over the entire body. Cleft palate and a decrease in intelligence may also occur in dysraphia syndrome, negatively affecting the quality of life. This also permanently disrupts and delays the child’s development, causing patients to suffer from limitations even in adulthood.Treatment always depends on the exact complaints and the malformations. Surgical interventions and various physiotherapy measures are necessary to permanently alleviate the symptoms. However, a complete cure is not achieved. As a rule, the syndrome does not negatively affect or reduce the patient’s life expectancy.
Prevention
Because dysraphia syndrome forms in the embryo, it cannot be specifically prevented. However, the literature describes that an undersupply of the vitamin folic acid in the pregnant mother increases the likelihood of dyraphia. Thus, care should be taken to ensure an adequate vitamin supply as well as a healthy lifestyle.
Follow-up
In dysraphia syndrome, the affected person is primarily dependent on a quick and, above all, an early diagnosis, so that further complications and a further worsening of the symptoms can be prevented. It is not possible for the condition to heal on its own, so patients are always dependent on comprehensive treatment. As a rule, aftercare measures are severely limited or hardly possible. Since it is also an own genetic defect, the dysraphia syndrome can be inherited. Therefore, if the affected person wishes to have children, genetic counseling can be performed to possibly prevent this inheritance. In most cases, the treatment of the dysraphia syndrome is carried out with the help of exercises from physiotherapy. Some of the exercises can be done by the patient at home to speed up the healing process. If necessary, some deformities can also be alleviated with the help of surgical interventions. In such a case, the affected person should rest and take care of his body afterwards. Contact with other dysraphia syndrome sufferers may also be useful in this regard.
What you can do yourself
People suffering from dysraphia syndrome should first talk to a doctor. The medical professional will initiate the necessary measures and give the patient tips on how to combat the individual symptoms themselves. In general, forms of treatment such as physiotherapy or physiotherapy are recommended, supported by daily movement exercises based on the type of deformity. Accompanying orthopedic aids and support in everyday life must be organized. Since dysraphia syndrome is usually diagnosed in childhood, parents are the main support and should be appropriately informed about the condition. Specialists and specialized clinics are the right contacts to gather knowledge about the malformations and their treatment options. This and early clarification by the doctor can enable the affected children to lead a normal life. Nevertheless, psychological complaints can develop due to the external blemishes. Parents should therefore pay close attention to possible warning signs and consult a therapist if necessary. Attending a self-help group can also help to understand the condition and its possible effects. In addition, other affected individuals can often name other strategies that make everyday life with dysraphia syndrome easier.
