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Duane retraction syndrome with congenital deafness

MedGen UID:
1804304
Concept ID:
C5680193
Disease or Syndrome
Synonyms: DRS with deafness; DRS with hearing loss; Duane retraction syndrome with congenital hearing loss; DURS with deafness; DURS with hearing loss
SNOMED CT: Duane retraction syndrome with congenital deafness (1230014007); Duane retraction syndrome with congenital hearing loss (1230014007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0035337
Orphanet: ORPHA529574

Definition

A rare neurologic disease with characteristics of the presence of Duane retraction syndrome (i.e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDuane retraction syndrome with congenital deafness

Recent clinical studies

Etiology

Marshman WE, Schalit G, Jones RB, Lee JP, Matthews TD, McCabe S
J AAPOS 2000 Apr;4(2):106-9. doi: 10.1067/mpa.2000.103439. PMID: 10773809

Diagnosis

Laban NB, Tasic VB, Danilovski D, Polenakovic M, Gucev ZS
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(1):209-11. doi: 10.1515/prilozi-2015-0047. PMID: 26076792
Khurana BP, Khurana AK, Grover S
J Pediatr Ophthalmol Strabismus 2015 May 7;52 Online:e26-9. doi: 10.3928/01913913-20150428-01. PMID: 25955520
Luo H, Xie L, Wang SZ, Chen JL, Huang C, Wang J, Yang JF, Zhang WZ, Yang YF, Tan ZP
Eur J Med Genet 2012 Nov;55(11):646-9. Epub 2012 Jul 31 doi: 10.1016/j.ejmg.2012.07.006. PMID: 22902603
Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC
Neurology 2007 Sep 18;69(12):1245-53. doi: 10.1212/01.wnl.0000276947.59704.cf. PMID: 17875913Free PMC Article
Haciyakupoglu G, Pelit AA, Altunbasak S, Soyupak S, Ozer C
J Pediatr Ophthalmol Strabismus 1999 Sep-Oct;36(5):301-3. doi: 10.3928/0191-3913-19990901-14. PMID: 10505838

Clinical prediction guides

Engle EC, Andrews C, Law K, Demer JL
Invest Ophthalmol Vis Sci 2007 Jan;48(1):189-93. doi: 10.1167/iovs.06-0631. PMID: 17197532Free PMC Article
Hughes PJ, Davies PT, Roche SW, Matthews TD, Lane RJ
J Neurol Neurosurg Psychiatry 1991 Jun;54(6):503-4. doi: 10.1136/jnnp.54.6.503. PMID: 1880511Free PMC Article

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