A dysraphy syndrome is a collective term under which various congenital malformations are summarized. Qua definition, such dysmorphisms are to be subsumed under the term, which are congenital and are the result of a faulty arrangement of the spinal cord or a raphe formation (disruption of the closure process).

What is dysraphy syndrome?

The medical term “dysraphy” comes from the Greek. It is made up of ραφή (pronounced: “Raphe”) for seam and the prefix Dys, which stands for deviations from the norm. Various malformations are considered to be dysraphy (in the specialist field “dysmorphism”), which can be traced back to a faulty arrangement of the spinal cord or a formation of raphe.

The so-called raphe perinei, which often deviates from the norm in a dysraphic syndrome, is an anteroposterior connection of the genital folds. Typical of dysraphia is that it is a congenital dysmorphia. Accordingly, the term is used to describe various diseases that are linked by very similar symptoms.

Causes

According to Wholevehicles, dysraphia is usually caused by an inadequate closure of the neural tube in the area of ​​the skull, the spinal cord or the spine. The neural tube forms the basis of the still developing central nervous system (CNS) in an embryo.

In people affected by dysraphia, the neural plate did not close to a tube in the embryonic stage of development, contrary to the norm, but often remained completely or partially open until the end of the birth. This leads to various impediments to the supply of the nerves below the level which is not or only insufficiently closed.

In the literature it is reported that affected newborns have skin changes, malformations of the extremities (especially on the legs and arms) and curvatures of the spine. It was also found that the probability of such a malformation is significantly increased if the pregnant mother is insufficiently supplied with folic acid.

Symptoms, ailments & signs

The exact symptoms depend on the respective manifestation of the dysraphy syndrome, which is why all of the symptoms listed below will never be present at the same time.

• Spina bifida is typical. This is an occlusive disorder of the spine. It is considered a neural tube defect and is therefore classified as part of the dysraphy syndrome. An incomplete closure of the posterior vertebral arches is referred to as spina bifida occulta, whereas spina bifida cystica also has a spinal cord prolapse.

• Various deformities of the foot are also possible symptoms of dysraphia. Depending on the specific development of the deformity, a distinction is made between pes planus (flat foot), pes equinovarus (also known as clubfoot in layman’s terms), pes valgus (buckled foot) and pes varus.

• Further symptoms are malformations of the individual vertebrae such as deformities of the wedge vertebrae or deformed half-vertebrae. These are often associated with scoliosis and kyphosis.

• In addition, the appearance of a four-finger furrow is also a sign of dysraphia. Here an extraordinary furrow occurs in the hand.

• In addition, a funnel chest, in which a funnel-shaped retraction of the thorax is recorded, is one of the typical complaints. In the human medical literature it is referred to as a pectus excavatum.

• Furthermore, hypertrichosis, clefts in the palate, mouth and throat, bladder weaknesses, psychological disorders such as antisociality and oligophrenia, the development of a rectum and neurologically induced disorders of sensitivity, motor skills or trophics are conceivable symptoms that can be traced back to dysraphy.

Diagnosis

Since dysraphias become apparent during the development of the human embryo, diagnosis can be carried out at an early stage. Accordingly, the first steps in therapy can often be initiated shortly after the birth. In particular, misalignments of the foot in newborns can be treated by simple redressment or the application of a solid plaster cast, so that there is no need for an operation in the first place.

In the majority of cases, the diagnosis can be made after a mere visual inspection of the person concerned (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, tests of the resilience and function of the muscles, or an ultrasound may also be indicated. Since dysraphy syndrome is a congenital dysmorphism, there will be no improvement without therapeutic measures.

Complications

In dysraphy syndrome, the patient suffers from various malformations that are already congenital. In most cases, a faulty attachment to the spinal cord is responsible for this. The complications are very different and depend heavily on the severity of the dysraphy syndrome.

Often, however, there is an occlusion disorder in the spine. It can also lead to malformations on the feet. In many of those affected, the breast is also damaged in the form of the so-called funnel breast. Bladder weakness and impaired sensation also occur. The malformations severely limit the patient’s everyday life and quality of life.

The malformations often lead to psychological complaints as the person concerned is not satisfied with their appearance. Mental deforestation is usually not affected, and in many cases psychological disorders occur. Aggressive behavior can also occur here.

Targeted 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. As a rule, there are no particular complications. Parents also often suffer from mental health problems.

When should you go to the doctor?

With dysraphy syndrome, those affected can suffer from a number of different malformations and deformities. In most cases, these are diagnosed immediately after birth, so that no additional diagnosis is necessary. The person concerned should then consult a doctor if the malformations cause difficulties and various complaints in everyday life. The sooner the symptoms are treated, the higher the likelihood of a complete cure.

The doctor should also be visited if the patient experiences impaired sensitivity or weak bladder. Due to the high number of malformations, regular examinations should usually be carried out in order to avoid complications in old age. As a result, the child’s development can also take place without restrictions.

Furthermore, the dysraphy syndrome can also lead to bullying or teasing, so that a psychologist should be consulted. Diagnosis and treatment of dysraphy syndrome is usually carried out by a pediatrician and various other specialists.

Treatment & Therapy

Treatment for dysraphy syndrome is usually focused on controlling or alleviating the symptoms. Basically, in addition to drug pain therapy, surgical interventions, physiotherapy and physiotherapy can also be considered.

Shortly after birth, the human body is usually still somewhat malleable, so that conservative treatment methods such as the application of splints or plaster of paris may be sufficient. The majority of dysraphs, however, can only be treated with corrective surgery. These can – depending on the type and severity of the procedure – take place under local or general anesthesia.

Outlook & forecast

Since the dysraphy syndrome is a series of broad congenital malformations, these can no longer be treated causally. Only symptomatic treatment is available to those affected, which can increase the quality of life again and significantly reduce the symptoms.

If there is no treatment, the patients suffer from considerable restrictions in everyday life, as malformations occur all over the body. Those affected have clubfoot, which can also lead to bladder weakness and sensory disorders all over the body.

A cleft palate and a reduction in intelligence can also occur in dysraphy syndrome and have a negative impact on quality of life. As a result, the development of the child is permanently disrupted and delayed, so that the patients also suffer from limitations in adulthood.

The treatment is always based on the exact symptoms and the malformations. Surgical interventions and various physiotherapy measures are necessary in order to permanently alleviate the symptoms. However, complete cure is not achieved. As a rule, the syndrome does not adversely affect or reduce the patient’s life expectancy.

Prevention

Because dysraphy syndrome already develops in the embryo, it cannot be specifically prevented. In the literature, however, it is described that an insufficient supply of the pregnant mother with the vitamin folic acid increases the likelihood of dyraphia. It is therefore important to ensure an adequate supply of vitamins and a healthy lifestyle.

Aftercare

In the case of dysraphy syndrome, the person affected 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 cannot heal on its own, so that the patients are always dependent on comprehensive treatment.

As a rule, follow-up measures are severely limited or hardly possible. Since this is also a genetic defect in its own right, the dysraphy syndrome can be inherited. If the person concerned therefore wishes to have children, genetic counseling can also be carried out in order to possibly prevent this inheritance.

In most cases, the dysraphy syndrome is treated with the help of exercises from physiotherapy or physiotherapy. Some of the exercises can also be carried out by the person concerned in their own home in order to possibly accelerate the healing process.

If necessary, some malformations can also be alleviated with the help of surgical interventions. In such a case, the person concerned should rest afterwards and take care of his body. Contact with other sufferers of the dysraphy syndrome can also be useful.

You can do that yourself

People with dysraphy syndrome should speak to a doctor first. The doctor will initiate the necessary measures and give the patient tips on how to take action against the individual symptoms.

In general, forms of treatment such as physiotherapy or physiotherapy are recommended, supported by daily movement exercises based on the type of malformation. In addition, orthopedic aids and everyday support must be organized. Since dysraphy syndrome is usually diagnosed in childhood, parents are the most important support and should inform themselves accordingly about the disease.

Specialists and specialist clinics are the right people to contact to gather knowledge about malformations and their treatment options. This and an early diagnosis by the doctor can enable the affected children to lead a normal life.

Nevertheless, mental complaints can develop due to the external flaws. 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 disease and its possible effects. In addition, other sufferers can often name other strategies that make everyday life with the dysraphy syndrome easier.