Moebius Syndrome

Description

Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

Clinical Features

Top most frequent phenotypes and symptoms related to Moebius Syndrome

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Motor delay
  • Muscular hypotonia
  • Ptosis
  • Cleft palate
  • Visual impairment
  • Epicanthus
  • High palate
And another 31 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Moebius Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
REV3L.

By Fulgent Genetics Fulgent Genetics in United States.

REV3L
Specificity
100 %
Genes
50 %
PLXND1.

By Fulgent Genetics Fulgent Genetics in United States.

PLXND1
Specificity
100 %
Genes
50 %

Alternate names

Moebius Syndrome Is also known as congenital facial diplegia; möbius syndrome.



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