Moebius syndrome (MBS)

What is Moebius syndrome (MBS)?

Moebius Syndrome is a rare neurological condition which presents with the lack of, or severe underdevelopment of the 6th and 7th cranial nerves.

As a congenital condition it is most commonly diagnosed at birth.

This underdevelopment in turn causes congenital facial palsy and abnormal ocular or eye movements. Affected individuals have less control over their facial expressions and eye movements.

What gene changes cause Moebius syndrome (MBS)?

There is currently no common genetic cause identified as responsible for causing the syndrome. It is currently believed to be caused by a mixture of genetic and environmental factors, but what these are exactly remains to be identified.

What are the main symptoms of Moebius syndrome (MBS)?

The syndrome affects the 6th and 7th cranial nerves which are responsible for eye movement and the controlling and making of facial expressions. This leads to syndromes such as crossed eyes, and further issues with speaking, earring, hearting and the ability to form facial expressions.

Other health conditions associated with the syndrome include a cleft palate, hearing problems, club foot, missing or fused fingers, Poland’s syndrome which affects the chest and upper limbs, dental problems and motor delay.

How does someone get tested for Moebius syndrome (MBS)?

The initial testing for Moebius syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

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