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Congenital hydrocephalus

MedGen UID:
9336
•Concept ID:
C0020256
•
Congenital Abnormality
Synonyms: Congenital Hydrocephalus; Hydrocephalus, Congenital
SNOMED CT: Congenital hydrocephalus (47032000); Hydrocephalus in newborn (47032000); Congenital hydrocephaly (47032000); Primary hydrocephaly (47032000); Primary hydrocephalus (47032000); Congenital hydrencephalus (47032000); Congenital hydrencephaly (47032000); Congenital dilatation of cerebral ventricles (47032000)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Related genes: CCDC88C, WDR81, MPDZ
 
Monarch Initiative: MONDO:0016349
OMIM® Phenotypic series: PS236600
Orphanet: ORPHA2185

Definition

A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly. [from ORDO]

Professional guidelines

PubMed

CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation.
Chen YJ, Wang WJ, Zou DF, Luo JX, Jin PY, Jin L, Liu XR, Liao WP, Li B, Chen YJ; China Epilepsy Gene 1.0 Project
Clin Genet 2024 Apr;105(4):397-405. Epub 2024 Jan 3 doi: 10.1111/cge.14476. PMID: 38173219
Prenatal diagnosis of birth defects and termination of pregnancy in Hunan Province, China.
Xie D, Liang C, Xiang Y, Wang A, Xiong L, Kong F, Li H, Liu Z, Wang H
Prenat Diagn 2020 Jul;40(8):925-930. Epub 2020 Jun 10 doi: 10.1002/pd.5648. PMID: 31955435
Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling.
Schrander-Stumpel C, Fryns JP
Eur J Pediatr 1998 May;157(5):355-62. doi: 10.1007/s004310050830. PMID: 9625330

Recent clinical studies

Etiology

Epidemiology of hydrocephalus in Brazil.
Dutra M, da Silva SC, Beggiora PDS, Santos MV, Machado HR, Lopes LDS
J Pediatr (Rio J) 2023 May-Jun;99(3):228-234. Epub 2022 Dec 6 doi: 10.1016/j.jped.2022.10.008. PMID: 36493803Free PMC Article
The role of cilia for hydrocephalus formation.
Wallmeier J, Dallmayer M, Omran H
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):47-56. Epub 2022 Apr 26 doi: 10.1002/ajmg.c.31972. PMID: 35470956
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.
Duy PQ, Weise SC, Marini C, Li XJ, Liang D, Dahl PJ, Ma S, Spajic A, Dong W, Juusola J, Kiziltug E, Kundishora AJ, Koundal S, Pedram MZ, Torres-Fernández LA, Händler K, De Domenico E, Becker M, Ulas T, Juranek SA, Cuevas E, Hao LT, Jux B, Sousa AMM, Liu F, Kim SK, Li M, Yang Y, Takeo Y, Duque A, Nelson-Williams C, Ha Y, Selvaganesan K, Robert SM, Singh AK, Allington G, Furey CG, Timberlake AT, Reeves BC, Smith H, Dunbar A, DeSpenza T Jr, Goto J, Marlier A, Moreno-De-Luca A, Yu X, Butler WE, Carter BS, Lake EMR, Constable RT, Rakic P, Lin H, Deniz E, Benveniste H, Malvankar NS, Estrada-Veras JI, Walsh CA, Alper SL, Schultze JL, Paeschke K, Doetzlhofer A, Wulczyn FG, Jin SC, Lifton RP, Sestan N, Kolanus W, Kahle KT
Nat Neurosci 2022 Apr;25(4):458-473. Epub 2022 Apr 4 doi: 10.1038/s41593-022-01043-3. PMID: 35379995Free PMC Article
Strabismus in hydrocephalus patients.
Koktekir BE, Koktekir E, Ozcan G, Karabagli H
Childs Nerv Syst 2019 Aug;35(8):1381-1384. Epub 2019 May 21 doi: 10.1007/s00381-019-04205-0. PMID: 31115645
Congenital hydrocephalus associated with myeloschisis.
Jeelani Y, McComb JG
Childs Nerv Syst 2011 Oct;27(10):1585-8. Epub 2011 Sep 17 doi: 10.1007/s00381-011-1560-4. PMID: 21928024

Diagnosis

Paediatric hydrocephalus.
Kahle KT, Klinge PM, Koschnitzky JE, Kulkarni AV, MacAulay N, Robinson S, Schiff SJ, Strahle JM
Nat Rev Dis Primers 2024 May 16;10(1):35. doi: 10.1038/s41572-024-00519-9. PMID: 38755194
Escape from prism.
Brodsky MC, Aul BJ, Daniels DJ, El-Dairi M
Surv Ophthalmol 2023 May-Jun;68(3):556-561. Epub 2022 Feb 15 doi: 10.1016/j.survophthal.2022.02.003. PMID: 35181281
Fetal and neonatal neurogenetics.
Jansen AC, Keymolen K
Handb Clin Neurol 2019;162:105-132. doi: 10.1016/B978-0-444-64029-1.00005-9. PMID: 31324307
Cerebrospinal Fluid Biomarkers of Pediatric Hydrocephalus.
Limbrick DD Jr, Castaneyra-Ruiz L, Han RH, Berger D, McAllister JP, Morales DM
Pediatr Neurosurg 2017;52(6):426-435. Epub 2017 Aug 11 doi: 10.1159/000477175. PMID: 28797007
Hydrocephalus in children.
Kahle KT, Kulkarni AV, Limbrick DD Jr, Warf BC
Lancet 2016 Feb 20;387(10020):788-99. Epub 2015 Aug 6 doi: 10.1016/S0140-6736(15)60694-8. PMID: 26256071

Therapy

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Greenberg ABW, Mehta NH, Allington G, Jin SC, Moreno-De-Luca A, Kahle KT
JAMA Netw Open 2023 Nov 1;6(11):e2343384. doi: 10.1001/jamanetworkopen.2023.43384. PMID: 37991765Free PMC Article
Are Shunt Revisions Associated with IQ in Congenital Hydrocephalus? A Meta -Analysis.
Arrington CN, Ware AL, Ahmed Y, Kulesz PA, Dennis M, Fletcher JM
Neuropsychol Rev 2016 Dec;26(4):329-339. Epub 2016 Nov 5 doi: 10.1007/s11065-016-9335-z. PMID: 27815765Free PMC Article
Maternal environmental risk factors for congenital hydrocephalus: a systematic review.
Kalyvas AV, Kalamatianos T, Pantazi M, Lianos GD, Stranjalis G, Alexiou GA
Neurosurg Focus 2016 Nov;41(5):E3. doi: 10.3171/2016.8.FOCUS16280. PMID: 27798989
Over-shunting associated myelopathy.
Howard BM, Sribnick EA, Dhall SS
J Clin Neurosci 2014 Dec;21(12):2242-4. Epub 2014 Jul 25 doi: 10.1016/j.jocn.2014.05.014. PMID: 25070631
Congenital hydrocephalus.
Mitra DK, Srinivas M
Indian J Pediatr 1997 Nov-Dec;64(6 Suppl):15-21. PMID: 11129876

Prognosis

Paediatric hydrocephalus.
Kahle KT, Klinge PM, Koschnitzky JE, Kulkarni AV, MacAulay N, Robinson S, Schiff SJ, Strahle JM
Nat Rev Dis Primers 2024 May 16;10(1):35. doi: 10.1038/s41572-024-00519-9. PMID: 38755194
Epidemiology of hydrocephalus in Brazil.
Dutra M, da Silva SC, Beggiora PDS, Santos MV, Machado HR, Lopes LDS
J Pediatr (Rio J) 2023 May-Jun;99(3):228-234. Epub 2022 Dec 6 doi: 10.1016/j.jped.2022.10.008. PMID: 36493803Free PMC Article
Genomics of human congenital hydrocephalus.
Kundishora AJ, Singh AK, Allington G, Duy PQ, Ryou J, Alper SL, Jin SC, Kahle KT
Childs Nerv Syst 2021 Nov;37(11):3325-3340. Epub 2021 Jul 7 doi: 10.1007/s00381-021-05230-8. PMID: 34232380
Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.
Etchegaray A, Juarez-Peñalva S, Petracchi F, Igarzabal L
Childs Nerv Syst 2020 Aug;36(8):1645-1660. Epub 2020 Jan 31 doi: 10.1007/s00381-020-04526-5. PMID: 32006096
Chronic hydrocephalus in adults.
Edwards RJ, Dombrowski SM, Luciano MG, Pople IK
Brain Pathol 2004 Jul;14(3):325-36. doi: 10.1111/j.1750-3639.2004.tb00072.x. PMID: 15446589Free PMC Article

Clinical prediction guides

Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.
Liu XY, Song X, Czosnyka M, Robba C, Czosnyka Z, Summers JL, Yu HJ, Gao GY, Smielewski P, Guo F, Pang MJ, Ming D
Mil Med Res 2024 Aug 12;11(1):54. doi: 10.1186/s40779-024-00560-5. PMID: 39135208Free PMC Article
CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation.
Chen YJ, Wang WJ, Zou DF, Luo JX, Jin PY, Jin L, Liu XR, Liao WP, Li B, Chen YJ; China Epilepsy Gene 1.0 Project
Clin Genet 2024 Apr;105(4):397-405. Epub 2024 Jan 3 doi: 10.1111/cge.14476. PMID: 38173219
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Greenberg ABW, Mehta NH, Allington G, Jin SC, Moreno-De-Luca A, Kahle KT
JAMA Netw Open 2023 Nov 1;6(11):e2343384. doi: 10.1001/jamanetworkopen.2023.43384. PMID: 37991765Free PMC Article
Fetal Ventriculomegaly and Hydrocephalus - What Shouldn't be Missed on Imaging?
Sira LB, Kozyrev DA, Bashat DB, Constantini S, Roth J, Shiran SI
Neurol India 2021 Nov-Dec;69(Supplement):S298-S304. doi: 10.4103/0028-3886.332286. PMID: 35102980
Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions.
McKnight I, Hart C, Park IH, Shim JW
Exp Neurol 2021 Jan;335:113523. Epub 2020 Nov 4 doi: 10.1016/j.expneurol.2020.113523. PMID: 33157092Free PMC Article

Recent systematic reviews

Genetic etiologies and diagnostic methods for congenital ventriculomegaly and hydrocephalus: A scoping review.
Aragón C, Robinson D, Kocher M, Barrick K, Chen L, Zierhut H
Birth Defects Res 2024 Jan;116(1):e2287. Epub 2023 Dec 20 doi: 10.1002/bdr2.2287. PMID: 38116905
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Greenberg ABW, Mehta NH, Allington G, Jin SC, Moreno-De-Luca A, Kahle KT
JAMA Netw Open 2023 Nov 1;6(11):e2343384. doi: 10.1001/jamanetworkopen.2023.43384. PMID: 37991765Free PMC Article
An eye on the future for defeating hydrocephalus, ciliary dyskinesia-related hydrocephalus: review article.
Hasanain AA, Soliman MAR, Elwy R, Ezzat AAM, Abdel-Bari SH, Marx S, Jenkins A, El Refaee E, Zohdi A
Br J Neurosurg 2022 Jun;36(3):329-339. Epub 2022 May 17 doi: 10.1080/02688697.2022.2074373. PMID: 35579079
A systematic review of the risks factors associated with the onset and natural progression of hydrocephalus.
Walsh S, Donnan J, Morrissey A, Sikora L, Bowen S, Collins K, MacDonald D
Neurotoxicology 2017 Jul;61:33-45. Epub 2016 Mar 18 doi: 10.1016/j.neuro.2016.03.012. PMID: 27000516
Maternal environmental risk factors for congenital hydrocephalus: a systematic review.
Kalyvas AV, Kalamatianos T, Pantazi M, Lianos GD, Stranjalis G, Alexiou GA
Neurosurg Focus 2016 Nov;41(5):E3. doi: 10.3171/2016.8.FOCUS16280. PMID: 27798989

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