Moebius Syndrome: Causes, Symptoms & Treatment

Möbius syndrome is a congenital malformation syndrome characterized by an inability to move the eyes laterally and facial paralysis. It is caused by maldevelopments in the embryonic period, the triggers of which have not been conclusively determined. Muscle transplantation can help patients achieve facial expression.

What is Möbius syndrome?

The group of congenital malformation syndromes with predominant involvement of the face includes various disorders whose cause is either in genetic material or in 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 the first describer. The leading symptoms for the rare condition are facial paralysis and the inability to move the eyes laterally. Because of these symptoms, the condition is sometimes referred to as oculofacial paresis. The exact prevalence of the congenital disorder is not yet known. So far, only 300 cases have been documented. This association indicates extreme rarity. Many patients are diagnosed late because of the rarity, although the syndrome is already clearly manifested in the newborn. Presumably, there is a relatively high number of unreported cases of patients who go undiagnosed for life.

Causes

Möbius syndrome occurs sporadically in most cases. However, familial clustering has been observed in some cases and appears to be based on 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. Thus, Möbius syndrome corresponds to 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. However, speculation suggests that prenatal ischemia of the brain may also cause the underdevelopment. Such ischemias play a role mainly for the sporadic cases and can be triggered, for example, by pregnancy trauma or in cases of drug abuse during pregnancy.

Symptoms, complaints, and signs

Newborns with Möbius syndrome wear a mask-like-looking face because their mimic muscles are paralyzed. As a result, the face appears expressionless and evokes feeding difficulties. For example, the patients can hardly drink at the maternal breast. Affected persons cannot follow moving objects with their eyes because they are incapable of lateral eye movements. Because of their facial expressions, patients with Möbius syndrome are often thought to be unfriendly or retarded. Nevertheless, in most cases they have normal intelligence. In some cases, Möbius syndrome is additionally associated with malformations. As such, for example, missing fingers and toes or clubfeet may manifest. Malformations of the torso are also common. Often, the affected persons also have strabismus. In individual cases, their eyes are also extremely dry, making it difficult for them to blink. Due to the dryness, secondary eye diseases may develop 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.

Diagnosis and course of the disease

It is difficult to diagnose Möbius syndrome. If the physician is familiar with the syndrome’s symptomatology, an initial suspicion will come to him or her after a visual diagnosis, if necessary. However, because the malformation syndrome can be confused with many other syndromes in this group, misdiagnosis is common. Because the syndrome does not appear to have a clearly identifiable genetic cause, even molecular genetic analysis cannot confirm the suspected diagnosis. This leaves the physician with few resources for an undoubtedly reliable diagnosis.

Complications

In most cases, affected individuals suffer from paralysis of the muscles in the face as a result of Möbius syndrome. The face itself appears very rigid and patients are unable to express their feelings and expressions with the help of facial expressions.Possibly the face of the affected person appears bizarre or natural to outsiders. Likewise, patients suffer from Möbius syndrome due to discomfort when taking in food and liquids and not infrequently require assistance in doing so. Furthermore, it is also no longer possible to move the eyes sideways, so that there are considerable restrictions in the daily life of the affected person. It is not uncommon for the patient’s facial expression to be perceived as unfriendly, so that social difficulties may arise, possibly leading to depression or other psychological complaints. Speech difficulties or swallowing problems may also occur as a result of Möbius syndrome, further reducing the patient’s quality of life. It is also not uncommon for the eyes to become dry and for strabismus to occur. Unfortunately, a causal treatment of this disease is not possible. Sufferers are dependent on muscle transplantation due to Möbius syndrome. Furthermore, the social discomfort can lead to teasing or bullying, especially in children.

When should you see a doctor?

If visual abnormalities or blemishes are noticed in newborns, obstetricians will initiate initial investigations to determine the cause. The absence of fingers or toes is noticed during the birth 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. If there is a malposition of the eyes, behavioral abnormalities, or signs of paralysis, the newborn requires medical attention. A disturbance of the facial expression is considered a sign of a disease that needs to be clarified. If there are problems with feeding or general dysfunctions, a doctor is needed. If there are delays or severe limitations in the further course of development and growth, a visit to the doctor is necessary. Speech disorders, problems with swallowing or the inability to hold saliva in the mouth are signs of an irregularity for which treatment is needed. Learning delays as well as a lack of social interaction, should be discussed with a physician. Möbius syndrome places a heavy burden on all family members. For this reason, they should be adequately informed about the course of the disease and the patient’s options. If treatment is started early, the best success and progress can be recorded for the patient under optimal conditions.

Treatment and therapy

No causal therapies are available for patients with Möbius syndrome. The syndrome is treated purely symptomatically. During the neonatal period, this symptomatic therapy focuses primarily on securing nutrition. Special bottles are available for this purpose. If nutrition cannot be secured via these aids, the physician resorts to feeding tubes. In most cases, early participation in physical therapy and speech therapy is also part of the patient’s treatment. These measures, in addition to gross motor skills and coordination, improve speech and the ability of the affected person to absorb food. Surgical solutions are available to correct strabismus. Surgical procedures can also correct the abnormalities of the limbs and, if necessary, the jaw. In some circumstances, additional muscle grafting can be performed to give patients more facial mobility. Life without the ability to move facially is associated with social rejection and exclusion. This rejection can promote psychological secondary diseases. To avoid such sequelae, muscle transplantation should be sought as early as possible. In addition, psychotherapeutic support can be recommended to the patients. This supportive therapy step ideally helps patients to deal 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 may receive implants or other hearing aids.

Outlook and prognosis

Möbius syndrome is associated with paralysis of the face. Life expectancy is not usually reduced, but well-being is greatly reduced because of the lack of facial expression. Affected individuals can lead normal lives. Provided that they receive medical treatment, there are usually no further physical complaints.However, in individual cases Möbius syndrome is associated with malformations of the fingers and hands or hearing loss and ear malformations. The exact prognosis depends on how severe the syndrome is. In addition, possible concomitant diseases 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 affected individuals. Some patients subsequently develop mental illnesses such as depression or anxiety disorders. As a result, the quality of life is massively reduced. The exact prognosis can be determined by a specialist in congenital diseases. 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.

Prevention

Möbius syndrome is caused by a maldevelopment of the cranial nerves. However, what exactly triggers this maldevelopment in the embryonic phase has not yet been conclusively clarified. Therefore, except for general pregnancy recommendations such as abstinence from harmful substances, no preventive measures are available for the symptom complex.

Follow-up

Affected individuals usually have no special or direct measures of aftercare available for Möbius syndrome. In the first place, a physician should be contacted at an early stage to prevent further worsening of the symptoms and thus prevent other complications from occurring. Due to the genetic nature of the disease, those affected should in any case undergo genetic testing and counseling if they wish to have children, in order to prevent the recurrence of the syndrome. Early diagnosis has a very positive effect on the further course of this disease. Those affected are dependent 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. Likewise, loving and intensive conversations are necessary so that psychological upsets or even depression can be prevented. If those affected suffer from hearing difficulties, hearing aids that can alleviate these should be used in any case. Intensive support for affected children is also necessary at school due to Möbius syndrome. The disease does not usually reduce the life expectancy of the affected person.

What you can do yourself

Möbius syndrome cannot yet be treated causally. Accordingly, self-help measures focus on supporting symptomatic therapy. Parents of affected children must first ensure regular food intake. This can be achieved by using special bottles, but also by taking measures to encourage the child to eat. The pediatrician can provide the parents with tips and aids to ensure nutrition. Accompanying this, the child usually also needs speech therapy. Targeted speech training supports the medical measures and in many cases also helps the child’s ability to absorb food. If strabismus is present, surgical treatment is necessary. Afterwards, the child needs to rest and take it easy. Depending on the severity of the symptoms, supportive therapy may be indicated. The measures that parents can take to alleviate the visual disturbances 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 following an operation, the eyes must be protected. Otherwise, infections and other complications may develop. Despite all the measures taken, Möbius syndrome is a serious disease that is often associated with psychological discomfort. Should the child develop inferiority complexes or show other abnormalities as a result of the disease, therapeutic counseling is advisable.