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
  • Muscular hypotonia
  • Cleft palate
  • Ptosis
  • High palate
  • Visual impairment
  • Motor delay
  • Epicanthus

And another 31 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Moebius Syndrome Is also known as mÖbius syndrome, congenital facial diplegia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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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 (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 321 more genes
Specificity
1 %
Genes
100 %
REV3L.

By Fulgent Genetics Fulgent Genetics (United States).

REV3L
Specificity
100 %
Genes
50 %
PLXND1.

By Fulgent Genetics Fulgent Genetics (United States).

PLXND1
Specificity
100 %
Genes
50 %

We have -4 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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