When Fuhrmann syndrome is a disease that is present in the diseased individuals at birth. Fuhrmann syndrome is extremely rare and is one of the hereditary diseases. Fuhrmann syndrome is typically characterized by hypoplasia of the fibula, which is the specialist medical term for the fibula. In addition, the fingers are affected by abnormalities and the femur is curved. Oligodactyly is also usually present.
What is carter syndrome?
According to FOODANDDRINKJOURNAL, the Fuhrmann syndrome is known under the synonymous term Fuhrman-Rieger-de-Sousa syndrome. The first scientific description of the Fuhrmann syndrome was in 1980 by the physician Fuhrmann and his colleagues. Fuhrmann syndrome appears with a prevalence of less than 1: 1,000,000 in the population.
Thus, the Fuhrmann syndrome is a very rare disease. At present, only about eleven people are known to suffer from Fuhrmann syndrome. In Fuhrmann’s syndrome, it has been suggested that there is an autosomal recessive inheritance pattern.
The main symptoms of the Fuhrmann syndrome consist of a curvature of the thigh bone, an underdevelopment or a complete absence of the fibula as well as anatomical anatomies on the fingers. For example, oligodactyly, polydactyly and syndactyly occur. In the cases of illness observed so far, the patients often had an underdeveloped pelvis and 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, the root bones of the feet may be missing or fusions between the bones may occur. Sometimes there is aplasia of various long bones. In Fuhrmann syndrome, it is also possible that toes are underdeveloped or not at all.
The causes of the Fuhrmann syndrome are genetic, so it is a hereditary disease. So far, doctors have assumed that the Fuhrmann syndrome is inherited as an autosomal recessive trait. In the context of the Fuhrmann syndrome, a certain protein loses its function to a greater or lesser extent. Specifically, it is a protein called WNT7A.
The corresponding gene is located on the gene locus 3p25. Further mutations are possible on the same gene, which in some people lead to diseases such as Al-Awadi-Raas-Rothschild syndrome or Schinzel phocomelia. These are basically allelic diseases. In some cases of Fuhrmann syndrome, however, these forms of mutations are undetectable.
Symptoms, ailments & signs
Fuhrmann syndrome occurs very rarely and manifests itself in various signs of disease and anatomical defects. In most cases, abnormalities affect the bone of the thigh. In addition, there are often changes to the calf bones and fingers. Patients with Fuhrmann syndrome also often suffer from a four-finger furrow, a dislocated hip and decreased mobility of the joints.
Sometimes the ears are abnormally shaped. The femur is usually curved while the fibula is hypoplastic or absent. People affected by Fuhrmann syndrome often show syndactyly, oligodactyly and polydactyly in the area of the fingers. The nails and fingers may be underdeveloped.
The diagnosis of Fuhrmann’s syndrome is best made in an institute specializing in rare hereditary diseases. The anamnesis of the patient first takes into account the individual signs of the disease as well as comparable cases in close relatives. Since the symptoms of Fuhrmann’s syndrome usually appear in newborns and children, the custodians are usually present at the patient interview and the subsequent examinations.
Visual examinations and imaging methods are used primarily to diagnose Fuhrmann syndrome. The attending physician examines the skeleton and in particular the areas affected by anomalies using X-ray techniques. MRI examinations are also used from time to time.
In addition, genetic analyzes of the patient’s DNA are useful in order to identify the causal genetic mutations and thus reliably diagnose Fuhrmann syndrome. In addition, the doctor carries out a differential diagnosis of the Fuhrmann syndrome, taking into account the Al-Awadi-Raas-Rothschild syndrome or the Schinzel phocomelia. Since some of the symptoms are partially similar, it is imperative to rule out the other diseases.
As a rule, Fuhrmann syndrome leads to various anomalies and malformations on the patient’s body. These malformations lead to various complications and restrictions in the everyday life of the person concerned. Fuhrmann syndrome mainly affects the bones and shows changes. The hip is also dislocated and the joints can only be moved slightly.
There are general mobility restrictions, so that the patient is dependent on the help of other people or on walking aids in his everyday life. The ears also show malformations, which can lead to hearing problems or deafness. It is not uncommon for fingers and nails to be incorrectly developed.
The mental development of the patient takes place without complaints and complications, so that there are no mental disabilities in adulthood. As a rule, it is not possible to treat the symptoms of Fuhrmann’s syndrome causally. Therefore only symptomatic treatment can take place.
This is done primarily through therapies and surgical interventions. If necessary, prostheses can also be used. With early therapy, complications in adulthood are avoided. Life expectancy is not changed by the syndrome.
When should you go to the doctor?
Fuhrmann syndrome is a very rare disease that is characterized by visual abnormalities in the child at birth. For this reason, obstetricians, midwives or the doctor present usually initiate a comprehensive health check of the newborn at birth.
Due to the fixed sequence of various examinations during an inpatient birth, parents and relatives do not have to take any further steps. This is only necessary if, for unexpected reasons, there was a home birth without medical assistance. In these cases, mother and child need to see a doctor as soon as possible.
Changes in the newborn’s hands, fingers, or nails are considered unusual and should be discussed with a doctor. If the shape of the pelvis shows mutations or shows abnormal behavior, it urgently needs a doctor. If natural body movements cannot be carried out as usual or if joint movements are restricted, a doctor should be consulted.
If you experience emotional discomfort as a result of the illness, you should see a doctor. A therapist should be consulted in the event of persistent depressive moods, social withdrawal behavior, shame or low self-confidence. If behavior problems occur in the form of aggressive tendencies or severe melancholy, the patient needs help and support in coping with the symptoms.
Treatment & Therapy
Fuhrmann syndrome is present at birth and is one of the hereditary diseases that arise from genetic mutations. For this reason, prenatal prevention of the anatomical defects of Fuhrmann’s syndrome is not possible, so that a causal treatment of the malformations has not yet been possible.
In order to enable patients with Fuhrmann syndrome to lead a largely normal and self-determined life, various symptomatic therapeutic approaches are usually used. The focus is on correcting the existing deformities of the skeleton. Depending on the severity of the symptoms, the treating doctors use corrective measures or prostheses.
In the context of a correction or the placement of a prosthesis on the femur, it must be ensured that the medullary canal on the thigh bone in Fuhrmann syndrome is usually relatively narrow. Corrective surgical interventions are often possible even in childhood patients.
Outlook & forecast
Fuhrmann syndrome is a congenital disease that cannot yet be treated as a cause. However, symptomatic therapy can enable those affected to lead a relatively normal life. If the drug treatment and the corrections of any malformations are carried out early, the long-term effects can be reduced.
The use of prostheses and physiotherapeutic treatment measures improve the patient’s quality of life and reduce the risk of accidents and falls. Fuhrmann syndrome does not normally affect mental development. The prognosis is accordingly positive and the prospect of a symptom-free existence is given.
However, a prerequisite for this is also therapeutic treatment. The malformations and health problems in general can lead to psychological problems that have a significant negative impact on wellbeing. Comprehensive psychological care makes it easier for those affected to deal with Fuhrman-Rieger-de-Sousa syndrome.
If the condition is diagnosed too late or not properly treated, serious complications can develop. The affected person may then suffer from physical and emotional complaints for a lifetime. Life expectancy is not reduced, but quality of life is severely limited as a result of the pronounced symptoms.
At this point in time, prenatal prevention of Fuhrmann’s syndrome is not yet practicable. Medical science is not advanced enough to effectively prevent hereditary diseases such as Fuhrmann’s syndrome in humans. In some cases, prenatal diagnosis of Fuhrmann’s syndrome in unborn babies in the womb is possible on the basis of the anatomical defects.
Follow-up care options are severely limited in Fuhrmann syndrome. It is a hereditary disease that can only be treated symptomatically and not causally. The affected person is mostly dependent on lifelong therapy, whereby a complete cure cannot be achieved.
If the patient also wishes to have children, genetic counseling can be carried out in order to prevent the Fuhrmann syndrome from being passed on to the descendants. The syndrome is treated by correcting the malformations and malformations, with the exact measures depending heavily on the exact severity of the symptoms.
A universal prediction of the further course cannot be given. Since most malformations are alleviated by surgical interventions, the person affected should rest afterwards and take care of their body. Stressful activities and other strenuous activities should definitely be avoided.
Most interventions are to be carried out at a young age in order to prevent further symptoms. Contact with other sufferers of Fuhrmann syndrome can also be useful, as it can lead to a valuable exchange of information.
You can do that yourself
Since those affected by Fuhrmann syndrome suffer from various malformations and underdevelopments, they need special support and care in their lives. The syndrome itself cannot be prevented, so treatment can only be symptomatic.
If the child suffers from hearing problems, these can possibly be compensated for by using a hearing aid. The hearing aid should always be worn because unnecessarily loud noises can damage the ears without wearing a hearing aid. Furthermore, the early use of prostheses can eliminate possible discomfort in the child’s development.
Due to the defects in the bones, those affected should not participate in dangerous sports or activities in order not to increase the risk of injury. In the case of surgical interventions, the attending physician should always be made aware of the Fuhrmann syndrome. Children must be fully informed about the disease and its consequences and complaints. This can counteract psychological upsets and possible depression. Above all, parents and close relatives need to give those affected psychological support.
Corrections in childhood can usually treat and remove most complaints. If deformities also occur in the skeleton, these can in some cases be treated with therapies and exercises. Those affected can often do the exercises they have learned at home.