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Chromosome 8Q12.1-q21.2 deletion syndrome

MedGen UID:
333071
Concept ID:
C1838346
Disease or Syndrome
Synonyms: BOR-Duane hydrocephalus contiguous gene syndrome; Branchio-Oto-Renal Duane hydrocephalus contiguous gene syndrome
 
Monarch Initiative: MONDO:0010852
OMIM®: 600257

Clinical features

From HPO
Ear malformation
MedGen UID:
75618
Concept ID:
C0266589
Congenital Abnormality
An abnormality of the ear.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Trapezius muscle aplasia
MedGen UID:
1815087
Concept ID:
C5706181
Congenital Abnormality
A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax).
Duane retraction syndrome
MedGen UID:
4413
Concept ID:
C0013261
Disease or Syndrome
Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle; globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome.

Professional guidelines

PubMed

Genovese A, Butler MG
Int J Mol Sci 2020 Jul 2;21(13) doi: 10.3390/ijms21134726. PMID: 32630718Free PMC Article
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Recent clinical studies

Etiology

Genovese A, Butler MG
Genes (Basel) 2023 Mar 9;14(3) doi: 10.3390/genes14030677. PMID: 36980949Free PMC Article
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Immunol Rev 2019 Jan;287(1):186-201. doi: 10.1111/imr.12701. PMID: 30565249
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Diagnosis

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Therapy

Butler MG
Int J Mol Sci 2019 Jun 14;20(12) doi: 10.3390/ijms20122914. PMID: 31207912Free PMC Article
Buccheri V, Barreto WG, Fogliatto LM, Capra M, Marchiani M, Rocha V
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Prognosis

Verrotti A, Carelli A, di Genova L, Striano P
Seizure 2015 Nov;32:78-83. Epub 2015 Sep 28 doi: 10.1016/j.seizure.2015.09.013. PMID: 26552569
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Phelan MC
Orphanet J Rare Dis 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14. PMID: 18505557Free PMC Article
Battaglia A, Carey JC, Wright TJ
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Clinical prediction guides

Greco M, Ferrara P, Farello G, Striano P, Verrotti A
Epilepsy Res 2018 Jan;139:92-101. Epub 2017 Dec 2 doi: 10.1016/j.eplepsyres.2017.11.016. PMID: 29212048
Daber RD, Conlin LK, Leonard LD, Canevini MP, Vignoli A, Hosain S, Brown LW, Spinner NB
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Recent systematic reviews

Neophytou P, Artemiadis A, Hadjigeorgiou GM, Zis P
Acta Neurol Belg 2023 Oct;123(5):1693-1701. Epub 2023 Jul 19 doi: 10.1007/s13760-023-02336-5. PMID: 37468803Free PMC Article
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Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article
Carvalho V, Ferreira JJ, Correia Guedes L
Mov Disord 2021 Sep;36(9):2017-2025. Epub 2021 May 31 doi: 10.1002/mds.28663. PMID: 34056754
Shah JS, Sabouni R, Cayton Vaught KC, Owen CM, Albertini DF, Segars JH
J Assist Reprod Genet 2018 Jul;35(7):1135-1148. Epub 2018 Apr 24 doi: 10.1007/s10815-018-1180-y. PMID: 29691711Free PMC Article
Panamonta V, Wichajarn K, Chaikitpinyo A, Panamonta M, Pradubwong S, Chowchuen B
J Med Assoc Thai 2016 Aug;99 Suppl 5:S187-93. PMID: 29906080

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