The cranial nerves, which connect the brain to the head and neck, are affected by Moebius syndrome, a rare neurological condition. Moebius syndrome occurs when some of these nerves are missing or underdeveloped, causing various symptoms and complications. These nerves control various functions, including eye movements, facial expressions, hearing, and swallowing.
Moebius syndrome has no known cause. It is not inherited, but some people with moebius syndrome have a family history of other neurological conditions or developmental disorders.
Mutations in certain genes, such as PLXND1 and REV3L
Misoprostol or cocaine exposure during pregnancy
The developing fetus does not receive enough blood flow or oxygen
Depending on which cranial nerves are affected, moebius syndrome symptoms vary from person to person. The most common symptoms are:
The inability to smile, frown, blink, or make other facial expressions due to facial paralysis or weakness
Crossed eyes, difficulty moving the eyes from side to side, dry eyes, or vision problems
Drooling, choking, or poor weight gain may be caused by feeding and swallowing difficulties
Delay in speech development, nasal voice, or difficulty articulating words are examples of speech problems
Tinnitus, ear infections, and hearing loss
An abnormal limb, such as clubfoot, webbed fingers, or missing fingers or toes
The presence of other problems, such as low muscle tone, breathing difficulties, sleep disorders, curvatures of the spine, or deformities of the chest wall
Moebius syndrome can also cause cognitive, behavioral, or emotional problems, such as learning disabilities, autism spectrum disorder, anxiety, or depression.
Symptoms and signs of Moebius syndrome, especially facial paralysis and eye problems, can be used to diagnose it. There is no specific test for moebius syndrome, but some tests may be performed to rule out other conditions or to assess the extent of nerve damage. These tests include:
Tests to detect genetic mutations or other abnormalities in the blood
X-rays, ultrasounds, MRIs, and CT scans are imaging tests used to detect bone, muscle, and organ defects
Exams to detect vision problems or abnormalities in the eyes
Checking for hearing loss or ear problems through hearing tests
Tests for speech development and articulation
Feeding and swallowing tests to detect difficulties
The symptoms of moebius syndrome can be managed and improved by various treatments and therapies, but there is no cure. Depending on the individual needs and goals of the person with moebius syndrome, a treatment plan may involve a team of specialists, including neurologists, ophthalmologists, otolaryngologists, orthopedists, plastic surgeons, dentists, speech therapists, occupational therapists, and psychologists. Here are a few treatments and therapies that may be used:
Pain, inflammation, infections, or other conditions are treated with medications
Eye drops or artificial tears to prevent dry eyes or eye infections
Correcting vision problems or eye alignment with glasses, contact lenses, or surgery
Repair of cleft palates, limb deformities, spine curvatures, and chest wall defects
Nerve grafting or smile surgery can restore facial movement or expression
An alignment or bite problem can be corrected with dental care
Providing adequate nutrition and hydration through feeding tubes or special diets
Therapy to improve speech development or articulation
Muscle strength, joint mobility, or posture can be improved with physical therapy
Occupational therapy improves daily living skills such as dressing, eating, and writing
Anxiety, depression, or low self-esteem can be treated with psychological therapy
Support for learning difficulties or special needs in the classroom
Although moebius syndrome has no known cause and is not inherited, some general measures may reduce the risk of birth defects.
Prenatal folic acid supplementation
Alcohol, tobacco, drugs, and medications that may harm the developing fetus should be avoided
Getting regular prenatal care and screenings
Genetic counseling if neurological or developmental disorders run in the family
