Moebius Syndrome: Differential Diagnosis

Moebius syndrome is a disorder affecting the cranial nerves that control movement of the face. People affected by the disorder lack any facial expression, including smiling, and may have an array of other symptoms such as deafness and deformities of the limbs. Because there are multiple forms of the disease, depending on which cranial nerves are affected, and many ways in which symptoms can manifest, the differential diagnosis includes a range of other neurologic, degenerative, and metabolic disorders.

Basilar Artery Thrombosis

Thrombosis or occlusion of the basilar artery can lead to neurologic impairment that can include problems with vision, impaired movement of the eyes and loss of movement. However, basilar artery thrombosis is an acute event representing a life-threatening emergency. Its other symptoms include loss of consciousness, behavioral anomalies, and sleepy behavior. It can lead to sudden death. Angiography is used to diagnose basilar artery thrombosis.

Brainstem Gliomas

Tumors of the brainstem can cause some symptoms resembling Moebius syndrome. These tumors comprise 10-20% of all childhood brain tumors. Symptoms include visual disturbances, difficulty walking, difficulty swallowing, headache, nausea, vomiting, and behavioral changes. Cranial nerve deficits are typically observed, particularly affecting cranial nerves VI and VII, which can cause loss of sensation in the face. Diagnosis of brainstem glioma will include imaging studies of the brain, examination of the CSF, and arteriography.

Congenital Muscular Dystrophy and Congenital Myopathies

The congenital muscular dystrophies are a group of autosomal recessive diseases that cause weakness starting at birth. Congenital myopathy is a disease with onset early in life causing hypotonia, hyporeflexia, and overall weakness. These illnesses are typically diagnosed with the help of laboratory and imaging studies.

Myasthenia Gravis

Myasthenia gravis is a rare autoimmune disorder affecting the peripheral nerves of the body. Myasthenia gravis can cause the facial muscles to be slack along with weakness or limpness in other parts of the body.

Focal Muscular Atrophy

Focal Muscular Atrophy could cause symptoms resembling Moebius syndrome. It can be challenging to diagnose.

Spinal Muscular Atrophy

Spinal muscular atrophy causes progressive weakness of those parts of the body that are controlled by the lower motor neurons. There are a number of types of spinal muscular atrophy. The most common are acute infantile (SMA type I), chronic infantile (SMA type II), chronic juvenile (SMA type III) and adult onset.

Toxic Neuropathy

Exposure to a toxic chemical or drug can lead to a range of symptoms, including blurred vision, tachycardia, loss of sensation, and motor dysfunction. Some common toxins that can lead to neuropathy are thallium, dimethylaminoproprionitrile, alcohol, carbon disulfide, ethylene oxide, mercury, and lead. Diagnosis can be made through a medical history aimed at eliciting all potential exposures, followed by sensory testing, intraepidermal nerve fiber density testing, sympathetic skin reflex, electromyography, and nerve conduction tests.


Further conditions to be considered in the differential diagnosis of Moebius syndrome include:

  1. cerebral palsy
  2. metabolic myopathies
  3. peripheral nerve injuries
  4. acquired facial palsy from delivery
  5. cardiofacial syndrome
  6. Duane syndrome
  7. oromandibular-limb hypogenesis disorders
  8. hypoglossia-hypodactylia
  9. Hanhart syndrome
  10. glossopalatine ankylosis
  11. Charlie M syndrome
  12. Athabascan brainstem dysgenesis syndrome
  13. Poland anomaly
  14. Klippel-Feil anomaly



Further Reading

Last Updated: Feb 27, 2019

Dr. Catherine Shaffer

Written by

Dr. Catherine Shaffer

Catherine Shaffer is a freelance science and health writer from Michigan. She has written for a wide variety of trade and consumer publications on life sciences topics, particularly in the area of drug discovery and development. She holds a Ph.D. in Biological Chemistry and began her career as a laboratory researcher before transitioning to science writing. She also writes and publishes fiction, and in her free time enjoys yoga, biking, and taking care of her pets.


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