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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.
Autosomal dominant inheritance (Orphanet)
 
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

Congenital anomalies in patients with Duane retraction syndrome and their relatives.
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

Severe scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS).
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
Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association.
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
Clinical characterization of the HOXA1 syndrome BSAS variant.
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
Crocodile tears and Dandy-Walker syndrome in cervico-oculo-acoustic syndrome.
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
Wildervanck or cervico-oculo-acoustic syndrome and MRI findings.
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

Clinical prediction guides

Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.
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
Wildervanck or cervico-oculo-acoustic syndrome and MRI findings.
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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