Everything You Need to Know About Moebius Syndrome

January 23, 2019

January 24th is Moebius Syndrome Awareness Day, and in recognition of this we’ve put together a comprehensive guide on this rare neurological condition.

Many people haven’t heard of Moebius Syndrome and it’s vital that people become better informed about rare conditions such as this one. This guide should answer all the questions you might have about this condition.


What is Moebius Syndrome?

Moebius Syndrome is an extremely rare neurological disorder which causes weakening and paralysis of the facial muscles. This includes the muscles which control facial expressions and eye movements, leaving people born with this condition without the ability to smile, blink, or suck. 


This happens because key cranial nerves are either underdeveloped or missing entirely. The resulting paralysis usually affects both sides of the face but in some people may only be present in one side of the face.


Symptoms include: 

  • Expressionless face
  • Strabismus - appearing 'crossed eyed' 
  • Dry and irritated eyes, or corneal erosion due to inability to blink
  • Visual impairment
  • Lack of lateral eye movement, meaning the person has to turn their head to look sideways
  • Bone abnormalities
  • Clubbed feet, missing fingers and toes
  • Speech problems due to impaired lip and tongue function
  • Webbing of the hands and feet
  • Inability to squint, causing light sensitivity 
  • Small mouth or chin
  • Oral and dental issues such as missing, overcrowded, or misaligned teeth, cleft palate or short tongue
  • Drooling
  • Hearing loss if certain nerves are affected
  • Low muscle tone
  • Problems with eating, swallowing, and choking
  • Delayed motor skill development

This is a congenital syndrome and is therefore present from birth. It is not progressive, and does not become worse over time; however additional medical support is usually necessary to help those affected.

Who is Affected? 

Moebius Syndrome is very rare, with only around 2 to 20 cases per million births. There is no pattern in who it affects, with men and women equally affected. Similarly, it’s found across people of all ethnicities.


What Causes Moebius Syndrome?


It’s unclear exactly what causes Moebius Syndrome and research is ongoing. Most cases occur sporadically and it isn’t passed down through families. In fact, most people with the condition have no family history of it. This means that it probably isn’t genetic, or if it is it follows an unusual hereditary pattern. 

Currently, it’s theorised that it’s a combination of both genetic and environmental factors that causes the condition.

How was Moebius Syndrome Discovered? 


Moebius Syndrome was first defined in the late 19th century. The condition was initially described by Prussian ophthalmologist Albrecht von Graefe, but these observations were further refined by German neurologist Paul Julius Möbius. The condition was therefore named after him.

 

How is Moebius Syndrome Diagnosed?


Moebius Syndrome is present from birth, and is usually noticed when babies have trouble feeding due to their inability to suck. There isn’t a specific test to diagnose the condition; rather it is based on a doctor’s clinical findings and observations of the patient’s symptoms. 

Since 2007, strict criteria have been used for diagnosis. The person must have both congenital facial weakness or paralysis, as well as the inability to move one or both eyes away from the nose. Other symptoms are usually present as well, but these are the two that must be present for a diagnosis to be made.

Can Moebius Syndrome Be Cured?

Moebius Syndrome cannot be cured, but there are a number of treatment options that can be used to help manage the condition and alleviate some of the symptoms.

 

Treatment Options


Nutritional Support

One of the first issues that an infant with Moebius Syndrome may experience is issues around feeding. As babies with this condition are unable to suck, they usually cannot breastfeed. Therefore it’s essential that alternative methods are discussed with a medical professional. These may include other feeding options, such as specially designed bottles, spoon-feeding, syringe-feeding, or feeding tubes. This helps to ensure the baby gets adequate nutrition.

 

Eyes & Vision

As people with Moebius Syndrome cannot fully blink, they are at a much higher risk of developing eye infections, and may also suffer from chronically dry eyes. Regular use of eyedrops can help to manage this. A surgery called tarsorrhaphy may sometimes be used to partially close the eyelids and alleviate discomfort. 

Corneal erosions are also common in this condition. Again, lubricating ointments and eye drops can help to prevent and manage these. Antibiotics may also be recommended to help prevent infections. Eyelid surgery and gold weights can also help to permanently protect the cornea.

As strabismus (crossed eyes) are also a symptom of this condition, surgery is sometimes used to correct the muscles around the eyes in order to treat this. This can improve vision problems.

Speech

As the muscles around the mouth are paralysed in this condition, speech therapy is often recommended to improve clarity. This is essential for children with this condition, as their lack of facial expressions can make communication difficult. A speech therapist can help them to refine their speech, as well as make other suggestions on improving their ability to communicate. 

Physical therapy can also help to improve coordination and help patients get better control when speaking and eating, which has the added benefit of reducing the risk of choking on food.

Dental and Orthodontic Issues

As people with Moebius Syndrome often have mouth abnormalities, dental issues such as crowded and misaligned teeth are common. Orthodontic devices such as braces can be used to reposition the teeth into a better position, which will also improve the ability to bite and close the mouth.

 

Corrective Surgery

Although other facial expressions can’t be restored, facial reanimation surgery can be used to give people with Moebius Syndrome the ability to smile. This is achieved by grafting a muscle from another part of the body (often the thigh) and transferring it to the face. This can also improve chewing and overall facial movement. This surgery is sometimes called ‘smile surgery’ and a physiotherapist will normally help  to teach the patient to smile in the months after the surgery.

Surgery may also be used to correct other issues resulting from the condition, such as clubbed feet and cleft palates.

Counselling and Therapy

Moebius Syndrome can have a number of lasting social and psychological effects, such as low self esteem and people not understanding the person properly due to their lack of facial expressions. Therapy can help to build coping mechanisms, improve self esteem, and help the patient find ways to communicate without facial expressions.

 

Moebius Syndrome Awareness Day


Moebius Syndrome Awareness Day is an annual event that takes place every year on the 24th January. Its aim is to raise awareness about the condition. If you’d like to take part, the Moebius Syndrome Foundation are encouraging people to wear purple in recognition of the condition, and spread awareness about Moebius Syndrome. There are also a number of events held in countries around the world, and a social media campaign using the hashtag #msad2019.