Moebius syndrome is a rare congenital neurological disorder that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth.
Static neurologic defect
Facial diplegia is the most noticeable symptom. This may be observed soon after birth, with incomplete eyelid closure during sleep, drooling, and difficulty sucking. On occasion, the facial paralysis is not noticed for a few weeks or months, until the infant’s inability to smile or the lack of facial movement with crying arouses the parents’ concern. People with Moebius syndrome are born with a small chin (micrognathia) and a small mouth (microstomia) with a short or unusually shaped tongue. The roof of the mouth may have an abnormal opening (cleft palate) or be high and arched. Other features of Moebius syndrome can include bone abnormalities in the hands and feet, weak muscle tone (hypotonia), and hearing loss.
No diagnostic laboratory studies yield findings specific to Möbius syndrome. Imaging studies—specifically, computed tomography (CT) scanning and magnetic resonance imaging (MRI)—may reveal calcifications in the regions of the CN VI nuclei and demonstrate cerebral malformations. Electromyography can be used to help determine whether a patient’s symptoms stem from birth trama and are therefore not associated with Möbius syndrome.
In patients with severe brainstem compromise that causes dysphagia, aspiration, and an inability to protect the airway, death may occur at a young age.
In patients with Möbius syndrome, feeding problems at birth and in infancy may be severe and often are aggravated by associated micrognathia. In severe cases, death may occur in the perinatal period, often as a result of respiratory or bulbar problems.
Life expectancy may be normal in patients with less extensive brainstem involvement.
No definitive treatment is available, with medical care being supportive and symptomatic. Surgical care is symptomatic or cosmetic, but it is not curative of the underlying syndrome
Follow-up care with the following therapies may be beneficial in patients, such as physical therapy, occupational and speech therapy.
- GENETICS HOME REFERENCES (www.ghr.nlm.nih.gov)
- MEDSCAPE (www.emedicine.medscape.com)
- RARECONNECT (www.rareconnect.org)