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. | Moebius, or Möbius, syndrome is defined as congenital facial palsy combined with abnormal ocular abduction, caused by abnormal development of the 6th and 7th cranial nerves. 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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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> | 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> | ||
The close relationship embryologically between the motor nuclei of the sixth and seventh cranial nerves explains the pathology of this rare condition<ref>May M, Schaitkin BM. Facial Nerve Disorders in Newborns and Children. In: The Facial Nerve. 2nd ed. New York, NY: Thieme New York; 2000:339-65</ref>.<br> | |||
== Clinical Presentation == | == Clinical Presentation == | ||
Revision as of 08:47, 13 May 2014
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Definition/Description
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Moebius, or Möbius, syndrome is defined as congenital facial palsy combined with abnormal ocular abduction, caused by abnormal development of the 6th and 7th cranial nerves. 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
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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].
The close relationship embryologically between the motor nuclei of the sixth and seventh cranial nerves explains the pathology of this rare condition[3].
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
- ↑ May M, Schaitkin BM. Facial Nerve Disorders in Newborns and Children. In: The Facial Nerve. 2nd ed. New York, NY: Thieme New York; 2000:339-65
