This article will go over what causes Moebius syndrome. You will also learn the symptoms of Moebius syndrome, how Moebius syndrome is diagnosed, and what treatments are available for Moebius syndrome.
Moebius Syndrome: Signs and Symptoms
The symptoms of Moebius syndrome depend on which nerves are affected. Whatever symptoms a person has will be apparent from birth. In most cases, the sixth and seventh cranial nerves are missing, though other cranial nerves may also be affected.
Common Moebius Syndrome Symptoms
The most common features of Moebius syndrome include:
Inability to smile, frown, close the eyelids, or form other facial expressions Inability to move eyes from side to side (laterally) Dry and irritated eyes Small chin (micrognathia) Small mouth (microstomia) Missing or misaligned teeth Excessive drooling Feeding, swallowing, and choking problems Inability to suck Cleft palate Limb deformities such as clubfoot and missing or webbed fingers (syndactyly) Crossed eyes (strabismus) Short tongue Weak muscle tone (hypotonia) Abnormal curvature of the spine (scoliosis) Respiratory disorders Sleep problems Motor delays Ear abnormalities that may lead to frequent or persistent ear infections (otitis media) Hearing problems Underdeveloped chest wall muscles (which may also include breast tissue)
Other Moebius Syndrome Symptoms
In some cases, the underdeveloped muscles of the chest are associated with another condition called Poland syndrome (or Poland anomaly). People with Poland syndrome are missing part of one of the large muscles of the chest (pectoralis major). This abnormal development can give the chest a concave appearance and usually causes upper body weakness and, sometimes, ribcage abnormalities.
Often individuals with Poland syndrome will also have abnormalities of the hand on the same side and, rarely, internal organs will be affected. People who also have Moebius syndrome may have other symptoms that do affect movement.
Some studies report up to 20 to 30% of children with Moebius syndrome have also been diagnosed with an autism spectrum disorder, though this association may be overstated. Since people with Moebius syndrome are physically unable to demonstrate facial expressions and may struggle to look people in the eye, these features may be construed as autistic behavior even though they are due to physical limitations.
Some children with Moebius syndrome may have motor, speech, or other delays. Most people with the condition do not have intellectual impairments, though assumptions may be made due to their physical struggle to speak and unique facial characteristics.
Causes of Moebius Syndrome
The exact cause of Moebius syndrome is not known. Researchers suspect that, like many other rare conditions, it is most likely caused by many different factors (multifactorial). Environmental exposures and genetics have been implicated in some studies, but more research is needed.
Rarely, Moebius syndrome has occurred in families (less than 2% of cases), suggesting there may be a genetic component in some cases. The majority of Moebius syndrome cases develop randomly (sporadically) in people with no family history of the disorder.
How Moebius Syndrome Is Diagnosed
There is no specific test to diagnose Moebius syndrome. Since the condition is present at birth, it can usually be diagnosed during a thorough newborn exam. While the specific manifestations depend on the cranial nerves that are underdeveloped or missing, there are three diagnostic criteria to make a diagnosis of Moebius syndrome:
Medical professionals may perform more specialized testing (such as neurological or ophthalmologic exams) to rule out other conditions that can cause facial paralysis and other symptoms of Moebius syndrome.
It’s very important that the correct diagnosis is made soon after birth. Children with Moebius syndrome typically need to work with a team of medical specialists, but the earlier intervention and care teams are assembled, the better the long-term outcomes for patients.
While Moebius syndrome is not progressive, the nature of the symptoms can present challenges for each patient individually depending on the specific nerves affected, the severity of the condition, and the availability of prompt diagnosis, treatment, and supportive resources.
Treatment for Moebius Syndrome
Each person with Moebius syndrome will have different needs. While there’s no definitive treatment or cure for the condition, a team of specialists can help coordinate care for people with Moebius syndrome.
Since the diagnosis can usually be made at birth or soon after, early interventions, such as physical, occupational, and speech therapy can be made early. A thorough eye exam and the ongoing support of an ophthalmologist can help address vision problems. If hearing is impaired, an audiologist may be consulted.
Other specialists that may be involved in care include:
Pediatricians and pediatric surgeonsEar, nose, and throat specialistsRespiratory specialistsNeurologistsMaxillofacial surgeonsPlastic surgeonsPsychiatristsOrthopedists
Surgery for Moebius Syndrome
If symptoms of Moebius syndrome are severe, surgery may be needed. In some cases, grafting of nerves from other parts of the body to replace the missing cranial nerves may be possible.
Other surgical procedures that may be necessary for Moebius syndrome include:
Surgery on the eye or eyelid to improve vision and correct strabismusOral surgery to address dental issuesOrthopedic procedures (or nonsurgical interventions such as splinting) to improve mobilityBraces or surgery to correct scoliosis
For patients who are diagnosed with Poland syndrome, cosmetic surgery procedures to correct structural abnormalities of the chest wall, including breast tissue, are also possible in many cases.
Living With Moebius Syndrome
Although the condition is not believed to be genetic, if Moebius syndrome does occur in a single-family, genetic counseling may be helpful.
While children with Moebius syndrome often “catch up” with any developmental or motor delays they experience and have normal intellectual functioning, they may still have a difficult time socially with peers or at school due to the uniqueness of their condition. Supportive counseling and educational resources may be helpful for families.
If children do struggle academically, for example, due to physical limitations like poor vision, special education programs, tutoring, or homeschooling can be considered.
Since Moebius syndrome is very rare, some parents may choose to send a letter or brief explainer to a child’s teacher before they start school. The Moebius Syndrome Foundation has a template that families can use to start this conversation with caregivers, educators, and healthcare professionals who may be unfamiliar with the condition.
Summary
Moebius syndrome is usually diagnosed at birth and prompt diagnosis and treatment are important to ensure a person with the condition gets the support they need. While some children with Moebius syndrome may have motor or speech delays, these are usually a result of physical symptoms associated with the mouth or muscles of the limbs.
Most people with Moebius syndrome don’t have any intellectual delays, though some research has indicated children with Moebius syndrome may be more likely to have autism spectrum disorders. While there is no definitive treatment or cure, there are a variety of treatment options including occupational and physical therapy and specialized surgery.
