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Rare developmental disorder characterized by facial paralysis (mask-like face) present at birth. Facial nerve development is absent, and the sixth (abducens) and seventh (facialis) cranial nerves are most often affected. Other features include numerous abnormalities of the orofacial region and malformations of limbs. Mental retardation occurs in approximately 10% of cases.

Moebius syndrome

A 5-year-old boy with Moebius syndrome and left-sided cranial nerve XII palsy manifesting with a deviation of the tongue to the affected side.

Moebius syndrome

A 10-year-old girl with Moebius syndrome. Very narrow palate with a wide open cleft.

Congenital Oculofacial Paralysis; Congenital Facial Diplegia, Moebius Sequence.

First described by Henri M. Thomas, an American neurologist, in 1898.

Rare. Affects males and females equally. Most cases of Moebius syndrome occur randomly for no apparent reason (sporadic cases).

Usually sporadic. Cases of autosomal dominant inheritance described (1898). Gene map locus is 13q12.2-q13. Recurrence risk is low at less than 1 in 50. Clinically they can often be differentiated by lack of limb involvement. A Moebius syndrome type II has been described in a large Dutch family with strong autosomal dominant transmission. Gene map locus is 3q21-q22. It is associated with multiple vascular abnormalities and poor prognosis.

Etiology is unknown. Four possible pathologic causes have been suggested: (a) hypoplasia to absence of central brain nuclei; (b) destructive degeneration of the central brain nuclei (this is the most common form; it is likely caused by a transient brainstem hypoxic event occurring at a critical time in utero and affecting the structures supplied by the developing subclavian artery); (c) peripheral nerve involvement; and (d) a myopathy. Moebius syndrome is thus considered as a nonspecific sign.

Based on clinical findings. Usually manifests soon after birth with sixth and seventh nerve palsies, which are either partial or complete and may be bilateral. Patients present with mask-like facies, incomplete closure of the eyelids during sleep, drooling of saliva, and difficulty sucking. Aspiration is common. On examination, multiple other abnormalities are usually detected. Important to differentiate from neuromuscular disorders occurring in early childhood.

Multiple cranial nerves may be involved (nerves V, VI, VII, IX, X, and XII can all be affected) and lead to orofacial malformations, abnormalities of tongue coordination, swallowing (bulbar muscle weakness), and drooling. Speech abnormalities are common. High risk for corneal abrasions. Usually the affected individuals are mentally normal. However, there is a 10% incidence of mild mental retardation. Occasionally peripheral neuropathy and pectoral muscle deficiency. Abnormalities of ventilation (central hypoventilation and idiopathic tachypnea) presumably result from brainstem abnormalities. Craniofacial features include micrognathia, microstomia, mandibular hypoplasia, tongue tethering, premaxillary ...

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