The Möbius syndrome is a congenital malformation syndrome that is characterized by an inability to move the eyes sideways and facial paralysis. The cause are undesirable developments in the embryonic phase, the triggers of which have not been conclusively clarified. A muscle transplant can help patients express themselves.
Newborns with Möbius syndrome wear a mask-like face because their facial muscles are paralyzed. The face therefore appears expressionless and causes nutritional problems.
The group of congenital malformation syndromes with predominantly facial involvement includes various diseases, the cause of which is to be sought either in the genetic material or in the embryonic development. This is a disease from this group of diseases Möbius syndrome, which was first described in 1888. The first person to describe it is the German neurologist Paul Julius Möbius, who inherited the syndrome's name.
The main symptoms for the rare clinical picture are facial paralysis and the inability to move the eyes sideways. Because of these symptoms, the disease is sometimes referred to as oculofacial paresis. The exact prevalence of the congenital disease is not yet known. So far, only 300 cases have been documented.
This connection points to extreme rarity. Many patients are diagnosed late due to its rarity, although the syndrome is clearly manifested in the newborn. Presumably there is a relatively high number of unreported cases who have not been diagnosed for life.
Möbius syndrome occurs sporadically in most cases. In some cases, however, a familial cluster was observed, which apparently is based on an autosomal dominant inheritance. The cause of the complex of symptoms is apparently an underdevelopment of the sixth and seventh cranial nerves. The sixth cranial nerve is also known as the abducens nerve. This nerve is involved in the lateral movement of the eyes.
The seventh cranial nerve is the facial nerve and controls facial expressions. The Möbius syndrome thus corresponds to an embryonic underdevelopment, the causes of which have not yet been conclusively determined.In the case of autosomal dominant inheritance, genetic factors probably play a role. However, speculation suggests that prenatal ischemia of the brain could also cause the underdevelopment. Such ischemias play a role above all in sporadic cases and can be triggered, for example, by pregnancy trauma or drug abuse during pregnancy.
Newborns with Möbius syndrome wear a mask-like face because their facial muscles are paralyzed. The face therefore appears expressionless and causes nutritional problems. For example, patients can hardly drink from their mother's breast. Those affected cannot follow moving objects with their eyes because they are unable to move their eyes sideways.
Because of their facial expressions, Möbius syndrome patients are often thought to be unfriendly or retarded. Nevertheless, in most cases they have a normal intelligence. In some cases Möbius syndrome is also associated with malformations. Missing fingers and toes or club feet can manifest as such. Malformations of the torso are also common.
Often those affected also squint. In individual cases, their eyes are also extremely dry and therefore make it difficult for them to blink. Due to the dryness, secondary diseases of the eyes can occur later. The syndrome is rounded off by symptoms such as speech difficulties, swallowing difficulties and drooling, which are often due to a deformity of the tongue.
The diagnosis of Möbius syndrome is difficult to make. If the doctor is familiar with the symptoms of the syndrome, a first suspicion may overtake him after the eye diagnosis. Since the malformation syndrome is to be confused with many other syndromes from this group, misdiagnoses are common.
Since the syndrome does not seem to have a clearly identifiable genetic cause, even a molecular genetic analysis cannot confirm the suspected diagnosis. This means that the doctor has hardly any resources available for an undoubtedly reliable diagnosis.
In most cases, Möbius syndrome causes paralysis of the muscles in the face. The face itself appears very rigid and the patients cannot express their feelings and expressions with the help of facial expressions. The face of the person affected may appear bizarre or natural to outsiders.
Likewise, patients with Möbius syndrome suffer from complaints when ingesting food and fluids and often need help. Furthermore, it is no longer possible to move the eyes to the side, so that there are significant restrictions in the everyday life of the person concerned. It is not uncommon for the patient's facial expression to be perceived as unfriendly, which can lead to social difficulties and thus possibly to depression or other psychological complaints.
Speech or swallowing difficulties can also occur due to Möbius syndrome and further reduce the patient's quality of life. It is not uncommon for the eyes to be dry and cross-eyed. A causal treatment of this disease is unfortunately not possible. Those affected are dependent on a muscle transplant due to Möbius syndrome. Furthermore, the social complaints can lead to teasing or bullying, especially among children.
If visual abnormalities or flaws are noticed in newborns, the obstetricians initiate initial examinations to clarify the cause. The absence of fingers or toes will be noticed during the labor process and immediately examined by a doctor. Deformity of the tongue is characteristic of Möbius syndrome and is also noticed during the first examination of the newborn. The newborn needs medical help if the eyes are misaligned, behave abnormally or if they show signs of paralysis. A facial expression disorder is a sign of a disease that needs to be clarified. A doctor is required if there are problems with feeding or general functional disorders.
If there are delays or severe restrictions in the further course of development and growth, a doctor's visit is necessary. Difficulty speaking, having difficulty swallowing, or being unable to hold saliva in your mouth are signs of an abnormality that needs treatment. Learning delays and a lack of social interaction should be discussed with a doctor.
Möbius syndrome is a heavy burden for all family members. For this reason, they should inform themselves sufficiently about the course of the disease and the possibilities of the patient. If the treatment is started early, the best results and progress can be recorded for the patient under optimal conditions.
No causal therapies are available for patients with Möbius syndrome. The syndrome is treated purely symptomatically. This symptomatic therapy focuses primarily on securing nutrition during the newborn period. Special bottles are available for this purpose. If nutrition cannot be secured with these aids, the doctor will use feeding tubes.
In most cases, early participation in physical therapy and speech therapy is also part of the treatment of the patient. In addition to gross motor skills and coordination, these measures improve the language skills and food intake of those affected. Surgical solutions are available to correct the strabismus.
Surgical interventions can also correct the abnormalities of the limbs and, if necessary, the jaw. Muscle transplantation may also be performed to give patients more facial mobility. A life without mimic movement is associated with social rejection and exclusion. This rejection can lead to psychological complications.
In order to avoid such secondary diseases, a muscle transplant should be sought as early as possible. Psychotherapeutic support can also be recommended to the patient. This supportive therapy step ideally helps those affected in dealing with social rejection and thus improves their quality of life.
As rather rare accompanying symptoms of the syndrome, hearing loss or deafness can also be treated symptomatically. For example, patients can receive implants or other hearing aids.
Möbius syndrome is associated with paralysis in the area of the face. Life expectancy is usually not reduced, but well-being is greatly reduced due to the lack of facial expressions. Affected people can lead normal lives. Assuming medical treatment, there are usually no other physical symptoms.
However, Möbius syndrome is associated with malformations of the fingers and hands or hearing loss and ear malformations in individual cases. The exact prognosis depends on how severe the syndrome is. In addition, possible comorbidities such as Poland Syndrome or Kallmann Syndrome play a role.
Möbius syndrome makes socialization difficult and can lead to a lack of self-esteem and other problems in those affected. As a result, some patients develop mental illnesses such as depression or anxiety disorders. This severely restricts the quality of life. A specialist in congenital diseases can provide the exact prognosis.
In addition to the severity of the disease and any accompanying disorders such as lesions or disorders of the eye muscles, the patient's environment must also be taken into account. The better the patient is supported by friends and family, the better the prospect of a symptom-free life.
Möbius syndrome is caused by an abnormal development of the cranial nerves. What exactly triggers this undesirable development in the embryonic phase has not yet been conclusively clarified. Therefore, apart from general pregnancy recommendations such as abstinence from harmful substances, no preventive measures for the symptom complex are available.
Those affected with Möbius syndrome usually have no special or direct follow-up measures available. First and foremost, a doctor should be contacted at an early stage so that the symptoms do not worsen further and so that no other complications arise. Due to the genetic nature of the disease, if people want to have children, they should definitely have a genetic test and advice to prevent the syndrome from recurring.
An early diagnosis has a very positive effect on the further course of this disease. Those affected are dependent on comprehensive support in their everyday life, with care and help from their own families having a very positive effect on the further course of the disease. Likewise, loving and intensive conversations are necessary so that psychological upsets or even depression can be prevented.
If people suffer from hearing problems, hearing aids that can alleviate them should definitely be used. Because of Möbius syndrome, intensive support for the affected children is also necessary at school. The disease does not usually reduce the life expectancy of those affected.
The Möbius syndrome cannot yet be treated causally. Accordingly, the self-help measures concentrate on supporting symptomatic therapy.
Parents of affected children must first ensure that they eat regularly. This is achieved through the use of special bottles, but also through measures that encourage the child to eat. The pediatrician can give the parents tips and aids to ensure nutrition. In addition, the child usually needs speech therapy. Targeted language training supports the medical measures and in many cases also helps the affected person's ability to eat.
If strabismus is present, surgical treatment is necessary. The child then needs rest and protection. Depending on the severity of the symptoms, supportive therapy is indicated. The measures parents can take to alleviate the visual disturbance also depend on the severity of the syndrome. In principle, the child should not be exposed to strong stimuli such as direct sunlight or any harmful substances. Especially in the days and weeks after an operation, the eyes need to be protected. Otherwise, infections and other complications may arise.
Despite all measures, Möbius syndrome is a serious illness that is often associated with psychological complaints. If the child develops inferiority complexes as a result of the illness or shows other abnormalities, therapeutic advice is advisable.