Duane Retraction Syndrome 2; Durs2

Description

Duane retraction syndrome (DURS) is a congenital disorder characterized by restricted horizontal eye movement with globe retraction and palpebral fissure narrowing on attempted adduction. DURS is observed in approximately 0.1% of the general population, accounts for 1 to 5% of all strabismus, and if untreated in childhood can result in loss of binocular vision and amblyopia. Postmortem examinations of individuals with sporadic DURS have shown absence of the abducens motor neurons and abducens cranial nerve on the affected side(s), and aberrant innervation of the lateral rectus by axons of the oculomotor nerve that normally innervate the medial rectus muscle. Most patients are affected unilaterally and have no family history of the disorder (summary by Miyake et al., 2010).For a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Duane Retraction Syndrome 2; Durs2

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Ptosis
  • Abnormality of the nervous system
  • Esotropia
  • Amblyopia
  • Cranial nerve paralysis
  • Congenital ptosis

And another 4 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.

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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Duane Retraction Syndrome 2; Durs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Duane retraction syndrome 2 (sequence analysis of CHN1 gene).

By CGC Genetics (Portugal).

CHN1
Specificity
100 %
Genes
100 %
Duane Retraction Syndrome 2.

By Exeter Molecular Genetics Laboratory (United Kingdom).

CHN1
Specificity
100 %
Genes
100 %
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROBO3, SALL4, KIF21A, CHN1, TUBB3, TUBB2B, ECEL1, HOXA1, HOXB1, PHOX2A
Specificity
10 %
Genes
100 %
Duane Retraction Syndrome Type 2 via the CHN1 GeneDuane Retraction Syndrome Type 2 via CHN1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CHN1
Specificity
100 %
Genes
100 %
Single gene testing CHN1.

By CeGaT GmbH (Germany).

CHN1
Specificity
100 %
Genes
100 %
Duane Syndrome: CHN1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

CHN1
Specificity
100 %
Genes
100 %
CHN1.

By Fulgent Genetics Fulgent Genetics (United States).

CHN1
Specificity
100 %
Genes
100 %
Hemato-oncology chromosomal microarray.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center (United States).

BLM, BRAF, BRCA1, BRCA2, SMARCB1, KDM5C, SMO, ABI1, SSX1, SSX2, SSX4, SS18, STAG2, STAT5B, TAF15, TCF12, TERT, TFE3, TFEB, TP53 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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