Moebius Syndrome: Difference between revisions
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== Definition/Description<br> == | == Definition/Description<br> == | ||
Moebius, or Möbius, syndrome is defined as congenital facial palsy combined with abnormal ocular abduction. It is a rare congenital condition that was first described by German neurologist Paul Julius Möbius in 1888<ref>Mobius PJ. Uber angeboren doppelseitige abducens-facialis-lahmung. Munchen Medizinische Wochenschrift. 1888;35:91-4.</ref>. | Moebius, or Möbius, syndrome is defined as congenital facial palsy combined with abnormal ocular abduction. It is a rare congenital condition that was first described by German neurologist Paul Julius Möbius in 1888<ref>Mobius PJ. Uber angeboren doppelseitige abducens-facialis-lahmung. Munchen Medizinische Wochenschrift. 1888;35:91-4.</ref>. | ||
Moebius syndrome is due to the loss of function of motor cranial nerves. Most cases are diagnosed during infancy. The disease is not progressive. | Moebius syndrome is due to the loss of function of motor cranial nerves. Most cases are diagnosed during infancy. The disease is not progressive. | ||
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== Clinically Relevant Anatomy<br> == | == Clinically Relevant Anatomy<br> == | ||
Please see the [[Facial nerve|Facial Nerve]] and [[Facial Palsy|Facial Palsy]] pages for information on the anatomy of the facial nerve. | Please see the [[Facial nerve|Facial Nerve]] and [[Facial Palsy|Facial Palsy]] pages for information on the anatomy of the facial nerve. | ||
== Mechanism of Injury / Pathological Process<br> == | == Mechanism of Injury / Pathological Process<br> == | ||
The etiology of Moebius syndrome is not known, but it appears to be multifactorial. There has been evidence of a genetic component related to various loci on chromosomes 3, 10, and 13<ref>Uzumcu A, Karaman B, Toksoy G, Uyguner ZO, Candan S, Eris H. Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome. Eur J Med Genet. Sep-Oct 2009;52(5):315-20</ref>.<br> | |||
== Clinical Presentation == | == Clinical Presentation == | ||
Revision as of 23:30, 12 May 2014
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Definition/Description
[edit | edit source]
Moebius, or Möbius, syndrome is defined as congenital facial palsy combined with abnormal ocular abduction. It is a rare congenital condition that was first described by German neurologist Paul Julius Möbius in 1888[1].
Moebius syndrome is due to the loss of function of motor cranial nerves. Most cases are diagnosed during infancy. The disease is not progressive.
Clinically Relevant Anatomy
[edit | edit source]
Please see the Facial Nerve and Facial Palsy pages for information on the anatomy of the facial nerve.
Mechanism of Injury / Pathological Process
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The etiology of Moebius syndrome is not known, but it appears to be multifactorial. There has been evidence of a genetic component related to various loci on chromosomes 3, 10, and 13[2].
Clinical Presentation[edit | edit source]
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Differential Diagnosis
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- ↑ Mobius PJ. Uber angeboren doppelseitige abducens-facialis-lahmung. Munchen Medizinische Wochenschrift. 1888;35:91-4.
- ↑ Uzumcu A, Karaman B, Toksoy G, Uyguner ZO, Candan S, Eris H. Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome. Eur J Med Genet. Sep-Oct 2009;52(5):315-20
