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Moebius syndrome

Getting a diagnosis of Moebius syndrome may feel like a complicated process. Many general physicians are not familiar with the syndrome because the condition is rare.

Moebius syndrome may require a co-diagnosis from neurology and ophthalmology, paired with a genetics consultation. If working towards a diagnosis for a child, be sure to see pediatric practitioners of these specialties.

Moebius Syndrome Diagnosis

In 2007, scientific researchers at the Moebius Syndrome Foundation Research Conference defined a diagnosis of Moebius syndrome as two-fold:

Congenital facial weakness (present at birth)
The inability to abduct (move the eye away from the nose) one or both eyes

These two symptoms may be due to the underdevelopment or absence of the facial nerve (cranial nerve 7) and the abducens nerve (cranial nerve 6), respectively.

Learn more about Moebius syndrome, its various presentations, and how this definition is evolving.

Today, many individuals with Moebius syndrome will be diagnosed within a year or two of birth. However, adults may not have received a clear diagnosis in childhood. No matter how you are arriving at a Moebius diagnosis, know that the Moebius Syndrome Foundation is here to support you.

Frequently Asked Questions

How is Neurology involved in a Moebius syndrome diagnosis?

Neurology helps us understand the structure of the cranial nerves and the brain. A neurologist may order an MRI to evaluate the sixth and seventh cranial nerves. An MRI may help determine if the nerves are fully developed and intact, underdeveloped, or missing.

How is Ophthalmology involved in a Moebius syndrome diagnosis?

Ophthalmology will examine the eyes and how they move. An ophthalmologist can determine if a patient has the inability to abduct (move the eye away from the nose) one or both eyes.

(Note: Don’t confuse an ophthalmologist with an optometrist! Ophthalmologists have attended medical school, completed residencies, and trained in surgery. Optometrists are medical professionals with eye training.)

How are Geneticists involved in a Moebius syndrome diagnosis?

Genetic conditions may also need to be ruled out. Some genetic disorders may present like Moebius syndrome. A geneticist may take a saliva sample or draw blood to study the genetic makeup of a patient and help shape a Moebius syndrome diagnosis.