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Moebius Syndrome

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Synonym: Mobius sequence/syndrome (Congenital facial diplegia)

This is a complex developmental disorder of the brainstem, where there is a congenital facial palsy (usually bilateral) in association with impairment in abduction of the eyes (also usually bilateral).¹ As well as involving the facial (VII) and abducens nerves(VI), other cranial nerves can be involved.

Other associated abnormalities¹

Orofacial dysmorphism: micrognathia (64% of patients), ocular hypertelorism (25%), epicanthal folds (89%), external ear defects (47%), high-arched palate (61%) tongue hypoplasia (77%), teeth defects (37%)
Limb malformations (syndactyly, oligodactyly, brachydactyly, arthrogryposis, absent trapezius or pectoral muscles, lower limb deformities in 69% e.g. club foot)
Mental retardation (IQ low in 50%)
Hypotonia, pharyngeal weakness, feeding difficulties
Respiratory difficulties in infancy
Delayed developmental milestones

Most cases are sporadic mutations, but an autosomal dominant transmission has been described (chromosome 13).¹ Misoprostol, ergotamine, and chorionic villus sampling have been suggested as possible environmental factors.²

Document references

Moebius syndrome (MBS) Online Mendelian Inheritance in Man (OMIM)
Shepard TH; Mobius syndrome after misoprostol: a possible teratogenic mechanism. Lancet. 1995 Sep 16;346(8977):780.

Internet and further reading

Moebius Syndrome Patient Support Group

Acknowledgements EMIS is grateful to Dr Huw Thomas for writing this article. The final copy has passed scrutiny by the independent Mentor GP reviewing team. ©EMIS 2008.
DocID: 2464
Document Version: 20
DocRef: bgp1491
Last Updated: 24 Jan 2008
Review Date: 23 Jan 2010

The authors and editors of this article are employed to create accurate and up to date content reflecting reliable research evidence, guidance and best clinical practice. They are free from any commercial conflicts of interest. Find out more about updating.

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