Moebius syndrome

Also known as: Möbius syndrome

Background

Moebius syndrome is a rare congenital disorder (present at birth) associated with abnormal development of the nerve supply to the head and neck, which is divided into twelve cranial nerves. Cranial nerves are can be seen on the ventral (bottom) surface of the brain. Some of these nerves bring information from the sense organs to the brain; other cranial nerves control muscles; other cranial nerves are connected to glands or internal organs such as the heart and lung. The main nerves affected are the sixth and seventh cranial nerves leading to congenital facial palsy (paralysis of the face).

Credits

Medical text written May 2006 by Dr W Lam. Last updated November 2012 by Dr W Lam, Consultant Clinical Geneticist, Western General Hospital, Edinburgh and Senior Lecturer, Edinburgh University, Edinburgh, UK.

What are the symptoms?

Children with Moebius syndrome have poor facial expression and eye movement. Sometimes there may be other abnormalities with the mouth, face or limbs. Involvement of other cranial nerves in addition to the sixth and seventh nerves is common.

Occasionally, the fifth, tenth, eleventh and twelfth cranial nerves are involved, resulting in difficulty chewing, swallowing and coughing, which often leads to respiratory (breathing) problems. Some people affect by the condition may have Learning disability or autistic spectrum disorder (see entry Autistic Spectrum disorders). There is also a well documented association between Moebius and Poland syndrome, a disorder where there is absent chest muscle and limb defects present at birth.

What are the causes?

It is thought that Moebius syndrome is due to a more general problem of brainstem development. However, other theories, such as disruption of the subclavian (collar bone) artery supply have been considered as possible causes of Moebius syndrome. There are reported cases of two or more affected members in one family suggesting a possible genetic basis to this syndrome. There are also reports of patients with Moebius syndrome and an associated problem with their chromosomes, from this several chromosomal regions are implicated in having a gene, which when changed, is responsible for this condition.

How is it diagnosed?

Diagnosis of Moebius syndrome is by the identification of the known features of the condition. There is no definitive test or genetic test to diagnose the condition.

How is it treated?

Treatment of Moebius syndrome is designed to reduce the symptoms experienced by a person with the condition. Infants sometimes require special bottles or feeding tubes to maintain sufficient nutrition. Children with Moebius syndrome usually benefit from physical and speech therapy to improve their motor skills and coordination, and to gain better control over speaking and eating, as well as occupational and sensory integration therapies.

There is some evidence of surgery being used to correct limb and jaw deformities. Plastic reconstructive surgery of the face has also been used in some cases. Surgery has been reported to have varied success.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
The majority of Moebius syndrome cases are sporadic, meaning that they occur by chance in a family. The inheritance pattern of the condition is not known.

Prenatal diagnosis
Associated features such as limb defects may be diagnosed on ultrasound scans, but there is no reliable form of prenatal diagnosis.

Is there support?

There is no support group for Moebius syndrome in the UK.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.

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