Fuhrmann syndrome is a disease that is present in affected individuals at birth. Fuhrmann syndrome is enormously rare and is one of the hereditary diseases. Typical for the Fuhrmann syndrome is a hypoplasia of the calf bone, which is called fibula in medical terminology. In addition, the fingers are affected by anomalies and the femur is curved. Oligodactyly is also usually present.
What is Fuhrmann syndrome ?
Fuhrmann syndrome is known by the synonymous term Fuhrman-Rieger-de Sousa syndrome. The first scientific description of Fuhrmann syndrome was made in 1980 by the physician Fuhrmann and his colleagues. Fuhrmann syndrome occurs with a prevalence of less than 1:1,000,000 in the population. Thus, Fuhrmann syndrome is a very rare disease. Currently, only about eleven people are known to suffer from Fuhrmann syndrome. Fuhrmann syndrome is thought to be inherited in an autosomal recessive pattern. The leading symptoms of Fuhrmann syndrome are a curvature of the femur, underdevelopment or complete absence of the fibula, and anatomical anatomies of the fingers. For example, oligodactyly, polydactyly, and syndactyly occur. In the cases of the disease observed so far, the patients often had an underdeveloped pelvis and hypoplastic fingers and nails. In addition, some individuals affected with Fuhrmann syndrome suffer from dislocation of the hip, which has been present since birth. In addition, the root bones of the feet are sometimes missing or fusions between the bones occur. Sometimes there is aplasia of various long bones. It is also possible in Fuhrmann’s syndrome that toes are underdeveloped or not laid out at all.
Causes
The causes of Fuhrmann syndrome lie in genetic causes, so that it is a hereditary disease. In this context, medical experts have so far assumed that there is an autosomal recessive inheritance of Fuhrmann syndrome. In Fuhrmann syndrome, a certain protein loses its function to a greater or lesser extent. Specifically, this is a protein called WNT7A. The corresponding gene is located on gene locus 3p25. Other mutations are possible on the same gene, which in some people lead to diseases such as Al-Awadi-Raas-Rothschild syndrome or Schinzel-type phocomelia. These are basically allelic disorders. However, in some cases of Fuhrmann syndrome, these forms of mutations are not detectable.
Symptoms, complaints, and signs
Fuhrmann syndrome occurs very rarely and manifests as various signs of disease and anatomic defects. In most cases, the bone of the thigh is affected by abnormalities. In addition, changes are often seen in the calf bone as well as the fingers. Patients with Fuhrmann syndrome also often suffer from a four-finger furrow, a 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 fingers. The nails and fingers may be underdeveloped.
Diagnosis
At best, the diagnosis of Fuhrmann syndrome can be made in an institute specializing in rare inherited disorders. The patient’s history first considers the individual signs of the disease as well as comparable cases in the immediate family. Since the symptoms of Fuhrmann syndrome usually appear in newborns and children, the parents or guardians are usually present during the patient interview and the subsequent examinations. Visual examinations and imaging techniques are used to diagnose Fuhrmann syndrome. Thus, the attending physician examines the skeleton and, in particular, the areas affected by abnormalities using X-ray methods. Sometimes MRI examinations are also used. In addition, genetic analyses of the patient’s DNA are useful to identify the causative genetic mutations and thus diagnose Fuhrmann syndrome with certainty. In addition, the physician performs a differential diagnosis in Fuhrmann syndrome, considering Al-Awadi-Raas-Rothschild syndrome and Schinzel-type phocomelia, respectively.Since some of the symptoms are sometimes similar, exclusion of the other diseases is urgent.
Complications
As a rule, Fuhrmann syndrome causes various anomalies and malformations on the patient’s body. These malformations lead to various complications and limitations in the daily life of the affected person. Due to Fuhrmann syndrome, the bones are mainly affected and show changes. The hip is also dislocated and the joints can only be moved weakly. There are general movement restrictions, so that the patient is dependent on the help of other people or on walking aids in his daily life. The ears also show deformities, which can lead to hearing difficulties or hearing loss. Not infrequently, fingers and nails are also incorrectly developed. However, 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 syndrome causally. Therefore, only symptomatic treatment can take place. This is mainly done by therapies and by surgical interventions. If necessary, prostheses can also be used. With early therapy, complications in adulthood are avoided. Life expectancy is not altered by the syndrome.
When should you see a doctor?
Fuhrmann syndrome is a very rare disorder characterized by visual abnormalities of the child at birth. For this reason, a comprehensive health check of the newborn is normally already initiated by obstetricians, midwives or the attending physician at birth. Due to the fixed procedure of various examinations during an inpatient birth, parents and relatives do not have to take any further steps. This is only necessary if there was a home birth without medical support for unexpected reasons. In these cases, a visit to the doctor is necessary for mother and child 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 shows mutations or if the child exhibits abnormal behavior, he or she needs urgent medical attention. If natural body movements cannot be performed as usual or if there are restrictions in joint movements, a doctor should be consulted. If emotional discomfort sets in during the course of life due to the disease, a visit to the doctor should take place. In case of persistent depressive moods, social withdrawal, shame or low self-esteem, a therapist should be consulted. If behavioral abnormalities occur in the form of aggressive tendencies or severe melancholy, the sufferer needs help and support in coping with the symptoms.
Treatment and therapy
Fuhrmann syndrome is present at birth and is one of the hereditary diseases caused by genetic mutations. For this reason, prenatal prevention of the anatomic defects of Fuhrmann syndrome is not possible, so causal therapy of the malformations has also not been feasible to date. 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 physicians use corrective measures or prostheses. In the context of a correction or the application of a prosthesis to the femur, it should be noted that the medullary canal on the femur is usually relatively narrow in Fuhrmann syndrome. Corrective surgical procedures are often possible in patients as young as infancy.
Outlook and prognosis
Fuhrmann syndrome is a congenital disorder that, to date, has no causative treatment. However, symptomatic therapy can allow affected individuals to lead relatively normal lives. If treatment with medication and correction of any malformations is carried out at an early stage, the late effects can be reduced. The use of prostheses and physiotherapeutic treatment measures improves the quality of life of sufferers and reduces the risk of accidents and falls. Mental development is usually not affected by Fuhrmann syndrome.The prognosis is accordingly positive and the prospect of a symptom-free existence is given. However, this also requires therapeutic treatment. For example, the malformations and the health problems in general can lead to psychological problems that significantly affect well-being. Comprehensive psychological care makes it easier for sufferers to deal with Fuhrman-Rieger-de Sousa syndrome. If the disease is diagnosed too late or is not treated adequately, serious complications may become apparent. The affected person may then suffer from physical and mental discomfort for the rest of his or her life. Although life expectancy is not reduced, the quality of life is severely limited as a result of the pronounced symptoms.
Prevention
At this time, prenatal prevention of Fuhrmann syndrome is not yet practical. Medical science is not advanced enough to effectively prevent inherited diseases such as Fuhrmann syndrome in humans. Partial prenatal diagnosis of Fuhrmann syndrome is possible in unborn babies in the womb based on the anatomical defects.
Follow-up
The options for follow-up care are severely limited in Fuhrmann syndrome. It is a hereditary disorder that can therefore also only be treated purely symptomatically and not causally. The affected person is usually dependent on a lifelong therapy, whereby a complete cure cannot be achieved. If the patient also wishes to have children, genetic counseling can be performed to prevent the Fuhrmann syndrome from being inherited by the descendants. The syndrome is treated by correcting the malformations and deformities, with the exact measures depending heavily on the exact manifestation of the condition. A universal prediction of the further course cannot be given. Since most malformations are alleviated by surgical intervention, the affected person should rest and take care of his or her body afterwards. Stressful activities and other strenuous activities should be avoided in any case. Most interventions should be performed at a young age to prevent further discomfort. Contact with other Fuhrmann syndrome sufferers can also be useful, as a valuable exchange of information can occur.
What you can do 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 also only be symptomatic. If the child suffers from hearing difficulties, these can possibly be compensated for by the use of a hearing aid. The hearing aid should always be worn, as unnecessarily loud noises can still damage the ears without wearing a hearing aid. Furthermore, the early use of prostheses can also eliminate possible discomfort in the development of the child. Due to the defects in the bones, affected individuals should not participate in dangerous sports or activities so as not to increase the risk of injury. During surgical interventions, the attending physician should always be informed about Fuhrmann syndrome. Children must be fully informed about the disease and its consequences and symptoms. This can counteract psychological upsets and possible depression. Above all, parents and close relatives must provide psychological support for those affected. Corrections in childhood can usually treat and remove most of the complaints. If there are also deformities of the skeleton, these can be treated in some cases by therapies and exercises. The exercises learned can often be performed by sufferers at home.
