The Fuhrmann syndrome is known by the synonymous term Fuhrman-Rieger-de-Sousa syndrome. The first scientific description of the Fuhrmann syndrome was made in 1980 by the physician Fuhrmann and his colleagues. The Fuhrmann syndrome occurs with a prevalence of less than 1: 1, 000, 000 in the population.
Thus, the Fuhrmann syndrome is a very rare disease. Currently only about eleven people are known to suffer from Fuhrmann syndrome. In the Fuhrmann syndrome, there are presumptions to an autosomal recessive pattern of inheritance.
The main symptoms of the Fuhrmann syndrome consist in a curvature of the femur, an underdevelopment or a complete absence of the fibula and anatomical anatomies on the fingers. For example, oligodactyly, polydactyly and syndactyly occur. In the cases observed so far, patients often had an underdeveloped pelvis as well as hypoplastic fingers and nails.
In addition, some people suffering from Fuhrmann syndrome suffer from a dislocation of the hip, which exists from birth. In addition, sometimes missing the root bone of the feet or there are mergers between the bones. Partially there is an aplasia of various long bones. It is also possible in Fuhrmann syndrome that toes are underdeveloped or not at all created.
The causes of the Fuhrmann syndrome lie in genetic causes, so it is a hereditary disease. Up to now, physicians have assumed that autosomal recessive inheritance of Fuhrmann syndrome exists. In the context of the Fuhrmann syndrome a certain protein loses its function more or less strongly. This is actually a protein called WNT7A.
The corresponding gene is located on the gene locus 3p25. On the same gene further mutations are possible, which lead in some people to diseases such as the Al-Awadi-Raas-Rothschild syndrome and the phocomelia type Schinzel. These are basically allelic diseases. However, in some cases of Fuhrmann syndrome, these forms of mutations are undetectable.
The Fuhrmann syndrome is very rare and manifests itself in various signs of disease and anatomical defects. In most cases, the bone of the thigh is affected by anomalies. In addition, changes in the calf bone and the fingers often show up. In addition, patients with Fuhrmann's syndrome often suffer from a quadruple furrow, dislocated hip, and decreased joint mobility.
Sometimes the ears have abnormal shapes. The femur is usually curved while the fibula is hypoplastic or completely absent. People affected by Fuhrmann syndrome often have syndactyly, oligodactyly and polydactyly in the area of the fingers. The nails and fingers may be underdeveloped.
The diagnosis of the Fuhrmann syndrome is best presented in an institute specializing in rare hereditary diseases. The patient's medical history initially takes into account the individual signs of the disease as well as similar cases in the closer relationship. Since the symptoms of the Fuhrmann syndrome usually already appear in newborns and children, the guardians are usually present at the patient interview and the subsequent investigations.
For the diagnosis of carter syndrome, visual examinations as well as imaging procedures are used. For example, the attending physician examines the skeleton and, in particular, the areas affected by anomalies using X-ray techniques. Occasionally, MRI examinations are also used.
In addition, genetic analyzes of patients' DNA are useful to identify the causative genetic mutations and thus to reliably diagnose the Fuhrmann syndrome. In addition, the physician performs a differential diagnosis in Fuhrmann syndrome, taking into account Al-Awadi-Raas-Rothschild syndrome or Schokel's phocomelia. Since some of the symptoms are partly similar, the exclusion of other diseases is urgently needed.
As a rule, Fuhrmann syndrome causes various anomalies and malformations of the patient's body. These malformations lead to various complications and limitations in the everyday life of the person affected. Fuhrmann syndrome mainly affects the bones and shows changes. Also, the hip is dislocated and the joints can only be moved weakly.
It comes to general restrictions on movement, so that the patient relies on the help of other people or on walking aids in his everyday life. The ears also have malformations, which can lead to hearing problems or to a hearing loss. Not infrequently, fingers and nails are wrongly developed.
The mental development of the patient, however, takes place without discomfort and complications, so that it comes in adulthood to any mental disabilities. As a rule, it is not possible to treat the complaints of the Fuhrmann syndrome causally. Therefore, only symptomatic treatment can take place.
This is done primarily through therapies and surgical interventions. Optionally, prostheses can also be used. Early therapy prevents complications in adulthood. Life expectancy is not changed by the syndrome.
Fuhrmann syndrome is a very rare disease characterized by visual abnormalities of the child at birth. For this reason, a comprehensive health check of the newborn is usually initiated by obstetricians, midwives or the present doctor at birth.
Due to the fixed schedule of various in-patient examinations, parents and relatives do not need to take any further steps. This is only necessary if, for unexpected reasons, there was a home birth without medical assistance. In these cases, a doctor's visit for mother and child is needed as soon as possible.
Changes in the hands, fingers or nails of the newborn are considered unusual and should be clarified by a doctor. If the shape of the pelvis has mutations or if the child shows a conspicuous behavior, it is urgently necessary for a doctor. If natural body movements can not be carried out as usual or if joint movements are restricted, a doctor should be consulted.
If emotional disorders develop during the course of life as a result of the illness, a doctor's visit should take place. For persistent depressive moods, a social withdrawal behavior, shame or a low self-esteem, a therapist should be consulted. If behavioral problems occur in the form of aggressive tendencies or severe melancholy, the patient needs help and support in coping with the symptoms.
The Fuhrmann syndrome is already present at birth and is one of the hereditary diseases that are caused by genetic mutations. For this reason, a prenatal prevention of the anatomical defects of the Fuhrmann syndrome is not possible, so that so far a causal therapy of the malformations is not feasible.
In order to enable the patients with Fuhrmann syndrome a largely normal and self-determined life, various symptomatic therapeutic approaches are usually used. Here, the correction of the existing malformations of the skeleton is in the foreground. Depending on the severity of the symptoms, the treating physicians use corrective measures or prostheses.
As part of a correction or the attachment of a prosthesis on the femur is important to ensure that the medullary canal is usually relatively narrow pronounced on the femur in Fuhrmann syndrome. Corrective surgery is often already possible in childhood patients.
The Fuhrmann syndrome is a congenital disorder that can not be treated causally so far. However, a symptomatic therapy can enable those affected to live a relatively normal life. If the drug treatment and the correction of any malformations occur early, the long-term consequences can be reduced.
The use of prostheses and physiotherapy treatment improves the quality of life of the sufferer and reduces the risk of accidents and falls. The mental development is usually not affected by the Fuhrmann syndrome. The prognosis is accordingly positive and the prospect of a complaint-free existence is given.
However, a prerequisite for this is also a therapeutic treatment. In general, malformations and health problems can lead to mental health problems that significantly affect well-being. Comprehensive psychological support makes it easier for patients to deal with the Fuhrman-Rieger-de-Sousa syndrome.
If the condition is diagnosed too late or not adequately treated, serious complications may result. The person affected may suffer from physical and emotional complaints for a lifetime. Although the life expectancy is not reduced, the quality of life is severely limited due to the pronounced symptoms.
At present, a prenatal prevention of the Fuhrmann syndrome is not yet practicable. Medical science is not advanced enough to effectively prevent hereditary diseases such as Fuhrmann syndrome in humans. Partial prenatal diagnosis of Fuhrmann syndrome in unborn children in the womb is possible on the basis of anatomical defects.
The possibilities of follow-up are severely limited in Fuhrmann syndrome. It is a hereditary disease, which can therefore be treated only symptomatically and not causally. The affected person is usually dependent on a lifelong therapy, whereby a complete cure can not be achieved.
If the patient also has a desire for a child, a genetic counseling can be performed to prevent the inheritance of the Fuhrmann syndrome to the descendants. The treatment of the syndrome is carried out by the correction of malformations and malformations, the exact measures depend heavily on the exact nature of the symptoms.
A universal prediction of the further course can not be given. Since most malformations are alleviated by surgical intervention, the person should rest after and protect his body. Stressful activities and other strenuous activities should definitely be avoided.
Most interventions are carried out at a young age to prevent further discomfort. Also the contact to other affected persons of the Fuhrmann syndrome can be meaningful, since it can come to a valuable exchange of information.
As sufferers of Fuhrmann syndrome suffer from various malformations and underdevelopments, they need special care and care in their lives. The syndrome itself can not be prevented, so that the treatment can only be symptomatic.
If the child suffers from hearing problems, they may be compensated by the use of a hearing aid. The hearing aid should always be worn, as unnecessary loud noises can damage the ears without wearing a hearing aid. Furthermore, the early use of prostheses can eliminate possible discomfort in the development of the child.
Due to the defects of the bones, those affected should not take part in dangerous sports or activities in order not to increase the risk of injury. For surgical interventions, the attending physician should always be referred to the Fuhrmann syndrome. Children must be fully informed about the disease and its consequences and symptoms. This can be counteracted mental disorders and possible depression. Especially parents and close relatives have to support those affected mentally.
Corrections in childhood usually treat most complaints and remove them. If malformations of the skeleton also occur, they can in some cases be treated by therapies and exercises. The learned exercises can often be performed at home.