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Moebius syndrome

Synonym(s) Congenital facial diplegia
Möbius syndrome
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Neonatal
  • Q87.0
  • C0221060
  • D020331
  • 10030069


Moebius syndrome is a congenital form of oculofacial paralysis. Approximately 300 cases have been reported in the literature to date. The first manifestation of the disease is an impaired ability to suck. Affected newborns also display excessive drooling and present with strabismus. Later, lack of facial expression, inability to smile, and absence of blinking and of lateral eye movements dominate the clinical picture. Other anomalies may be associated, such as tongue deformation (and hence speech difficulties) and jaw abnormalities. Limb deformities are observed in one third of patients and can include club-foot, missing or webbed fingers or Poland's anomaly. Most children suffer from low muscle tone, especially in the upper part of the body, leading to a delayed acquisition of walking. Mild intellectual deficit occurs in approximately 10 percent of cases. Moebius syndrome is caused by abnormal development of the 7th cranial nerve (facial) in all patients and of 6th cranial nerve (abducens) in 75% of the cases. Other cranial nerves can also occasionally be affected (the 3rd, 4th, 5th, 9th, 10th and 12th). Most cases of Moebius syndrome are isolated cases with no notable family history. The disease does not evolve and management is essentially symptomatic. Infants may require special bottles or feeding tubes to maintain sufficient nutrition. Patients can also benefit from physical and speech therapy to improve their gross motor skills and coordination, and to gain better control over speaking and eating. Strabismus is usually correctable with surgery and limb and jaw deformities may also often be improved through surgical intervention. Muscle graft can give the face some mobility and allow patients to smile.

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