Möbius syndrome is a congenital malformation syndrome characterized by an inability to move the eyes laterally and facial paralysis. The causes are faulty developments in the embryonic phase, the triggers of which have not been finally clarified. Muscle grafting can help patients learn facial expressions.
What is Moebius Syndrome?
The group of congenital malformation syndromes with predominant involvement of the face includes various diseases whose cause can be found either in the genetic material or in the embryonic development. One disease from this group of diseases is Möbius syndrome, which was first described in 1888. The German neurologist Paul Julius Möbius, who gave the syndrome its name, is considered to be the first to describe it. See sciencedict for Introduction to Megaureter.
The main symptoms of 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. Due to its rarity, many patients are diagnosed late, although the syndrome clearly manifests itself in the newborn. There is probably a relatively high number of unreported patients who do not receive a diagnosis for life.
In most cases, Möbius syndrome occurs sporadically. In some cases, however, a familial accumulation was also observed, which is apparently based on an autosomal dominant inheritance. The cause of the complex of symptoms appears to be 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 characterized. In the case of autosomal dominant inheritance, genetic factors probably play a role. According to speculation, however, prenatal ischemia of the brain could also cause underdevelopment. Such ischaemia plays a role above all in sporadic cases and can be triggered, for example, by pregnancy trauma or drug abuse during pregnancy.
Symptoms, Ailments & Signs
Newborns with Möbius syndrome have a mask-like face because their facial muscles are paralyzed. The face therefore appears expressionless and provokes feeding difficulties. 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, patients with Moebius syndrome are often mistaken for being unfriendly or retarded. Nonetheless, in most cases they possess normal intelligence. In some cases, Möbius syndrome is also associated with malformations. As such, missing fingers and toes or club feet can manifest themselves. Torso deformities are also common.
Those affected often also squint. In some cases, their eyes are also extremely dry, making it difficult for them to blink. Due to the dryness, secondary diseases of the eyes can occur later. Completing the syndrome are symptoms such as difficulty speaking, difficulty swallowing, and drooling, often due to a deformity of the tongue.
Diagnosis & course of disease
The diagnosis of Möbius syndrome is difficult to make. If the doctor is familiar with the symptoms of the syndrome, he will have a first suspicion after the visual diagnosis. However, since the malformation syndrome can be confused with many other syndromes from this group, misdiagnoses are common.
Because the syndrome does not appear to have a clearly recognizable genetic cause, even a molecular genetic analysis cannot confirm the suspected diagnosis. This means that the doctor has hardly any means at his disposal for an undoubtedly reliable diagnosis.
In most cases, those affected by Möbius syndrome suffer from paralysis of the facial muscles. The face itself appears very rigid and the patients cannot express their feelings and expressions with the help of facial expressions. The face of those affected may appear bizarre or natural to outsiders.
Patients with Möbius syndrome also suffer from problems when eating and drinking and often need help. Furthermore, it is no longer possible to move the eyes sideways, so that there are considerable 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 possibly to depression or other psychological problems.
Difficulties in speaking or swallowing can also occur as a result of Möbius syndrome and further reduce the patient’s quality of life. Not infrequently, the eyes are also dry and squinting occurs. Unfortunately, a causal treatment of this disease is not possible. Those affected are dependent on muscle transplantation due to Möbius syndrome. Furthermore, the social complaints, especially in children, can lead to teasing or bullying.
When should you go to the doctor?
If optical abnormalities or blemishes are noticed in the newborn, the obstetrician initiates the first examinations to clarify the cause. The absence of fingers or toes is noticed during the birth process and immediately examined by a doctor. A deformity of the tongue is characteristic of Mobius syndrome and is also noticed on the initial examination of the newborn. If the eyes are misaligned, abnormal behavior or signs of paralysis, the newborn needs medical help. A facial expression disorder is considered a sign of a disease that needs to be clarified. If there are problems with food intake or general functional disorders, a doctor is needed.
If there are delays or severe restrictions in the further course of development and growth, a doctor’s visit is necessary. Speech disorders, difficulty swallowing, or the inability to keep saliva in the mouth are signs of a disorder 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 be sufficiently informed about the course of the disease and the patient’s options. With an early start of treatment, the best success and progress can be recorded for the patient under optimal conditions.
Treatment & Therapy
There are no causal therapies 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 uses feeding tubes.
In most cases, early participation in physical therapy and speech therapy is also part of the patient’s treatment. These measures improve not only gross motor skills and coordination, but also the ability to speak and the ability to eat of those affected. Surgical solutions are available to correct strabismus.
Surgical interventions can also correct the anomalies of the limbs and, if necessary, the jaw. Under certain circumstances, a muscle transplant can also be carried out so that the patients have more mobility in their face. A life without facial mobility is associated with social rejection and exclusion. This rejection can promote psychological complications.
In order to avoid such secondary diseases, muscle transplantation should be attempted as early as possible. In addition, psychotherapeutic support can be recommended to the patient. This supportive therapy step ideally helps those affected to deal with social rejection and thus improves their quality of life.
Hearing loss or deafness, which are rather rare accompanying symptoms of the syndrome, can also be treated symptomatically. For example, patients can receive implants or other hearing aids.
Outlook & Forecast
Möbius syndrome is associated with facial paralysis. Life expectancy is usually not reduced, but well-being is greatly reduced due to the lack of facial expressions. Affected people can live normal lives. Assuming medical treatment, there are usually no further physical symptoms.
However, in individual cases, Möbius syndrome is associated with malformations of the fingers and hands or hearing loss and ear deformities. The exact prognosis depends on how severe the syndrome is. Possible comorbidities such as Poland syndrome or Kallmann syndrome also play a role.
Mobius syndrome makes socialization difficult and can lead to low self-esteem and other problems in those affected. As a result, some patients develop mental illnesses such as depression or anxiety disorders. This severely limits 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 included. The better the patient is supported by friends and family, the better the prospect of a symptom-free life.
Möbius syndrome is caused by abnormal development of the cranial nerves. What exactly triggers this maldevelopment 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 are available for the symptom complex.
Affected people 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 get worse and other complications do not occur. Due to the genetic nature of the disease, those affected should definitely have a genetic test and counseling carried out if they wish to have children in order to prevent the syndrome from reoccurring.
Early diagnosis has a very positive effect on the further course of this disease. Those affected depend on comprehensive support in their everyday lives, with the care and help of their own family having a very positive effect on the further course of the disease. Loving and intensive conversations are also necessary so that psychological upsets or even depression can be prevented.
If those affected suffer from hearing problems, hearing aids that can alleviate them should definitely be used. Due to Möbius syndrome, intensive support for the affected children is also necessary at school. The disease usually does not reduce the life expectancy of the person affected.
You can do that yourself
The Möbius syndrome cannot be treated causally so far. The self-help measures accordingly concentrate on supporting the symptomatic therapy.
Parents of affected children must first ensure regular food intake. 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 tools to ensure proper nutrition. In addition, the child usually has to be treated with 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. What measures parents can take to alleviate the visual disturbances also depends on the severity of the syndrome. Basically, the child should not be exposed to strong stimuli such as direct sunlight or any pollutants. The eyes must be protected, especially in the days and weeks after an operation. Otherwise, infections and other complications can set in.
Despite all measures, the Möbius syndrome is a serious illness that is often associated with psychological problems. If the child develops an inferiority complex as a result of the illness or shows other abnormalities, a therapeutic consultation makes sense.