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Moebius Syndrome
Wednesday, 17 November 2004
Wednesday, 17 November 2004
Mobius Syndrome, Congenital Facial Diplegia, Congenital Oculofacial Paralysis

What

Moebius syndrome is a very rare disorder characterized by congenital (present from birth) paralysis of the facial and eye muscles. This results in the inability to smile, frown, blink or move the eyes. This syndrome was first described by Mobius in 1888.

Who

Moebius syndrome is extremely rare. Only some 300 cases have been documented worldwide. Boys and girls of all races and ethnicities are affected equally.

Signs and Symptoms

The facial paralysis usually occurs on both sides of the face, but incomplete facial paralysis, involving either the upper or lower portion of the face, can occur. In some babies the paralysis results in facial deformities during in-utero development. These include a high-arched or cleft palate, a small jaw, and a short or deformed tongue. The tongue may be small in 25% of babies and have limited movement. Teeth problems are common. The newborn will often have difficulty eating due to poor sucking and swallowing skills. Babies with Moebius Syndrome drool excessively due to their inability to completely close their mouths. Choking during feeding may occur. Aspiration pneumonia is a serious complication. If other nerves of the head (cranial nerves) are involved, breathing problems may occur. Their eyes are often crossed and blinking is reduced. Sensitivity to bright lights occurs due to inability to squint. Some babies are also very sensitive to loud noise. The baby’s face may appear masked due to its inability to move the lips and make facial expressions. Difficulty conveying emotions can result in poor bonding between the parents and the child. Most children also have low muscle tone. As a result, it takes longer to learn to crawl and walk. One third of children with Moebius syndrome may have a club foot or missing or webbed fingers. Speech difficulties are common. Fluid buildup in the middle ear can cause hearing problems. Autistic behavior is seen in 35% of children. Intelligence is usually normal, but 10% of children present with mild mental retardation. Adults with Moebius syndrome have reduced facial wrinkling and prominent lips.

Possible Causes

In Moebius syndrome, there is disruption of the normal development of the seventh cranial (head) nerve and, in 75% of cases, the sixth cranial nerve, early in the first trimester of pregnancy. The seventh nerve controls the movements of the mouth and eyelids. The sixth nerve allows the eyes to look away from the nose. The exact cause of the nerve defects is unknown, but about 2 % of cases appear to be hereditary. Moebius syndrome is not contagious or preventable. It is not caused by anything the mother did or did not do during pregnancy. In some cases, a medication called misoprostol has been associated with Moebius syndrome.

Diagnosis

Moebius syndrome may go undiagnosed for months to years after birth. No specific lab tests exist to confirm the diagnosis of Moebius syndrome. A CT or MRI of the brain may show calcification in the brainstem where the affected cranial nerves arise. The diagnosis is usually made clinically, on physical examination by a physician. A test called an evoked facial nerve electromyography (EMG) should be performed to check the function of the facial nerve. This test can rule out traumatic injury during birth as the cause of the paralysis.

Treatment

No definitive treatment exists. In severe cases where breathing is compromised, surgical intervention may be required to secure the airway. A tube placed in the wind pipe through an incision in the neck is the most commonly used technique. Feeding issues are more common. Special bottles may be required. If oral feedings with special nipples or oral/nasal gastric tubes cannot be accomplished, a tube may be surgically placed into the stomach to directly provide nutrition. At the same time, occupational therapists will work to teach the baby to eat by mouth. Because children with Moebius syndrome cannot fully close their eyes, it is important to protect the eye from drying. Artificial tears should be used during the daytime and lubricants during sleep. Upper eyelid gold weights have been used during sleep to keep the eye closed. Corneal damage and infection may occur if the eye is not properly cared for. This can lead to blindness. Speech therapy is very important after the neonatal period to help children learn to speak. Physical therapy will also help the child with walking. Surgery can also correct eye crossing. Ear tubes may be placed to prevent recurrent ear infections and hearing loss. If limb or jaw abnormalities are present, reconstructive surgery can be performed. In some cases, reanimation procedures-nerve and muscle transfers to the corner of the mouth-have been performed to provide the ability to smile.

Prognosis

Moebius syndrome does not worsen over time. In fact, facial mobility improves with age. Most children do very well. In severe cases, death may occur in the newborn due to breathing problems.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Moebius Syndrome Foundation
Nonprofit organization by parents and people with Moebius syndrome providing newsletter, networking, information, referrals, phone support, recent research development, and yearly conferences.

FACES: The National Craniofacial Association
Provides financial support for non-medical expenses to patients traveling to a craniofacial center for treatment, education, newsletter, and networking opportunities.

About Face USA
A non-profit organization providing networking, support and education.

Children's Craniofacial Association
A national nonprofit organization providing education, financial assistance, networking, and a newsletter.

Talk Tools
Tools for Oral-Motor Therapy

Google Search for Moebius Syndrome

References and Sources

www.emedicine.com/neuro/topic612.htm www.ciaccess.com/moebius/homepage.html www.faces-cranio.org/Disord/Moebius.htm www.rarediseases.about.com/cs/moebiussyndrome/a/081603.htm