Moebius Syndrome

What is Moebius Syndrome?

It is a very rare congenital neurological disease that causes facial paralysis and an inability to rotate the eyes from one side to another. Most individuals with this syndrome display complete facial paralysis since birth and are unable to form any facial expressions or close their eyes. Chest wall and limb abnormalities sometimes accompany the primary symptoms of this syndrome. Patients of Moebius Syndrome display normal intelligence levels. However, the absence of facial expressions is occasionally incorrectly assumed to be resulting from dullness or unfriendliness.

The condition is also known as Möbius Syndrome.

Moebius Syndrome Prevalence

The exact records for the incidence of this condition are not known. The syndrome is said to be very rare. Researchers believe that it affects 1 in 50000 or even 1 in 500000 newborns.

Moebius Syndrome History

The syndrome is named after the German neurologist Paul Julius Möbius, who first described this condition in 1888.

Moebius Syndrome Causes

Although the exact causes for the occurrence of this disorder are not known, two factors are believed to play an important role in this syndrome.

Disruption of blood flow to the fetal brain

Researchers believe that disruption or disturbance of the flow of blood to the fetus’ brain might be responsible for this syndrome. However, the exact cause for the disruption of blood flow is not known.

Exposure to harmful drugs

The condition might result from certain drugs taken by the mother during her pregnancy. These include:

  • Thalidomide, which is taken to cure multiple myeloma (a form of blood cancer) in some patients
  • Cocaine
  • Misoprostol, used for various medical purposes such as inducing labor or curing certain ulcers

Genetic factors

Experts believe that in some rare cases, the condition is caused by some genetic or hereditary predispositions. Generally, only a single person within a family is found to be affected by this disorder in almost all cases.

Moebius Syndrome Symptoms

The syndrome is marked by an underdevelopment of 6th and 7th cranial nerves. The 6th cranial nerve controls the lateral movement of the eyes and the 7th cranial nerve handles the facial expressions. Patients of this syndrome have inborn facial paralysis, accompanied by an inability to move the eyes laterally. The upper lip of the mouth is often retracted as a result of muscle shrinkage. The 5th and 8th cranial nerves are occasionally affected. If the 8th cranial nerve is affected, an individual experiences hearing loss.

On an average, it is believed that there are anywhere between two to twenty cases Moebius syndrome in per million births. The condition is often diagnosed at a later stage due to its rarity, infants and newborns with this condition can be identified easily at birth by the “mask-like” absence of expression that can be observed during laughing or crying. The baby is also unable to suck during breastfeeding or nursing as a result of paresis or palsy of the 6th and 7th cranial nerves. Since an individual having this disorder cannot follow objects and people by turning their eyes from one side to another, they turn their heads instead.

Other signs and symptoms occasionally shown by these patients include the following:

  • Dysarthria
  • High palate
  • Submucous cleft palate
  • Dental or teeth problems
  • Minor mid-line anomalies
  • Deformed or short tongue
  • Limited tongue movement
  • Crossed eyes or strabismus
  • Difficulty in swallowing and/or in breathing
  • Chest-wall abnormalities or Poland Syndrome
  • Corneal erosion that results from difficulties in blinking
  • Limb abnormalities, such as clubbed feet, and missing toes or fingers

Children with this condition may have a delayed development of speech as a result of paralysis of lips. However, speech therapy can help these patients to develop understandable speech. This syndrome has also been associated with an increased incidence of symptoms of autism. Unfortunately, some children with this disorder are wrongly labeled as being autistic or mentally retarded due to their expressionless faces, frequent drooling and strabismus.

 

Moebius Syndrome Diagnosis

Due to the early age in which the effects of this syndrome are visible, the parents or other family members generally bring the infant patients to the attention of doctors. Ocular and facial symptoms are generally the problems that are presented.

The most commonly noticeable symptom is facial diplegia, which can be observed as soon as the child is born along with an inability to close the eyelids completely during sleep. This is accompanied by drooling and sucking difficulty.

Sometimes, the symptoms of facial paralysis are not noticed for the first few weeks or even months until a child’s inability to communicate or smile or lack of facial movements with crying episodes arouses the attention of his or her patients.

Due to immobility of facial and forehead skin, it appears to be without wrinkles. Sometimes, just a little diminution in the width of palpebral fissures may be noted during sleep.

Although some physicians are not enthusiastic about pursuing imaging studies of a patient’s brain, many doctors actually recommend them. MRI scans or CT scans of the brain might show bilateral calcifications within the areas of 6th cranial nerve nuclei. Bilateral calcifications of basal ganglia might be observed in some CT scans. However, the presence of these calcifications do not conclusively suggest Moebius syndrome as they are not specific to the disease.

The brainstem may also appear hypoplastic, along with straightening of 4th ventricular floor. Presence of other genetic cerebral malformations may also be determined by obtaining brain MRIs.

Although prenatal ultrasound tests are not normally indicated, they have been used to analyze brainstem calcifications and basal ganglia in brains of the developing infants.

 

Moebius Syndrome Differential Diagnosis

A number of health conditions can produce symptoms that are similar to those seen in Moebius syndrome. Possibilities for such conditions should be evaluated while diagnosing for this syndrome. These include the following:

  • Cerebral Palsy
  • Duane syndrome
  • Poland syndrome
  • Toxic Neuropathy
  • Myotonic diseases
  • Myasthenia Gravis
  • Brainstem Gliomas
  • Kallmann syndrome
  • Klippel-Feil anomaly
  • Brainstem syndromes
  • Metabolic neuropathy
  • Metabolic Myopathies
  • Congenital Myopathies
  • Neuromuscular diseases
  • Spinal Muscular Atrophy
  • Focal Muscular Atrophies
  • Basilar Artery Thrombosis
  • Asymmetrical crying facies
  • Congenital Muscular Dystrophy
  • Traumatic Peripheral Nerve Lesions
  • Abducens (6th cranial nerve) nerve palsy

Moebius Syndrome Treatment

There is no single method of cure or treatment for this disorder. The treatment is mainly supportive and in keeping with the symptoms. If the infants have difficulty in nursing or breastfeeding, they may require special bottles or feeding tubes for maintaining sufficient nutrition.

Occupational, physical and speech therapy helps to improve the motor skills as well as coordination, which can lead to better management of eating and speaking abilities. Frequent lubrications using eye drops is generally sufficient to handle dry eyes which are caused by impaired blinking.

Orthodontic devices can help with problems relating to a high palate and help in improving the child’s ability to bite or close the mouth appropriately. In more critical cases, orthognathic surgery might help in relieving jaw problems. Crossed eyes can be corrected by surgery. A surgical procedure known as tarsorraphy can help to protect the cornea.

Deformities of the laws and limbs can also be improved by appropriate surgeries. A special surgical procedure known as Smile Surgery is often employed in which muscles are transferred from other parts of the body, generally the thigh and placed or grafted around the corners of a patient’s mouth. This gives an individual the ability to smile effortlessly. Although this procedure makes it easier for a patient to smile, the operation is complex and might take 12 hours for either side of the face of the individual’s. The procedure cannot be considered as a cure for this syndrome as it does not allow a patient to form the other facial expressions with ease.

This syndrome do not hinder individuals from enjoying personal or professional success. As facial expressions and smiles are an important part of social interactions, the disability to perform either function properly can result in the patients of this condition being perceived as rather unfriendly or even uninterested in conversations and other social interactions. Friends or family members of Moebius syndrome patients can identify other emotive signals such as gestures and body languages to such an extent that they may even forget that they are interacting with a person having facial paralysis. Individuals affected by this condition can compensate for lack of expressions by the use of body language, postures and vocal tones to convey emotions and ideas.

Moebius Syndrome Prognosis

There are no definitive treatment procedures for this condition that can cure it permanently. In some cases, severe respiratory complications might lead to infant death or mortality. Proper medical and familial care can help the patients to live a normal life and have a long life expectancy.

Moebius Syndrome Support Groups

Support groups like the Moebius Syndrome Foundation assist the patients having this condition and provide support to their families with help relating to medical and social needs.

Moebius Syndrome Pictures

Here are some images that will give you an idea about the nature of this syndrome.

Picture of Moebius Syndrome

Picture 1 – Moebius Syndrome

Image of Moebius Syndrome

Picture 2 – Moebius Syndrome Image

Moebius Syndrome is a quite rare congenital condition that causes facial paralysis and other forms of physical deformities. Although there is no permanent cure to this syndrome, early treatment can help patients to handle their own physical limitations with ease and lead a relatively normal life.

Leave a Reply