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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.
 
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

Wang P, Jin P, Zhu L, Chen M, Qian Y, Zeng W, Wang M, Xu Y, Xu Y, Dong M
J Gene Med 2022 May;24(5):e3417. Epub 2022 Apr 6 doi: 10.1002/jgm.3417. PMID: 35338537Free PMC Article
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
Schrander-Stumpel C, Fryns JP
Eur J Pediatr 1998 May;157(5):355-62. doi: 10.1007/s004310050830. PMID: 9625330

Recent clinical studies

Etiology

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
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
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
Darbà J, Marsà A
Expert Rev Pharmacoecon Outcomes Res 2022 Jul;22(5):877-881. Epub 2022 Feb 2 doi: 10.1080/14737167.2022.2035724. PMID: 35085473
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

Diagnosis

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
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
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
Jansen AC, Keymolen K
Handb Clin Neurol 2019;162:105-132. doi: 10.1016/B978-0-444-64029-1.00005-9. PMID: 31324307
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

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
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
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
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
Mitra DK, Srinivas M
Indian J Pediatr 1997 Nov-Dec;64(6 Suppl):15-21. PMID: 11129876

Prognosis

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
Darbà J, Marsà A
Expert Rev Pharmacoecon Outcomes Res 2022 Jul;22(5):877-881. Epub 2022 Feb 2 doi: 10.1080/14737167.2022.2035724. PMID: 35085473
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
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
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

Clinical prediction guides

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
Almannai M, AlAbdi L, Maddirevula S, Alotaibi M, Alsaleem BM, Aljadhai YI, Alsaif HS, Abukhalid M, Alkuraya FS
Hum Genet 2023 Mar;142(3):399-405. Epub 2022 Dec 23 doi: 10.1007/s00439-022-02513-1. PMID: 36564622
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
Ludwig HC, Dreha-Kulaczewski S, Bock HC
J Neurosci Res 2021 Nov;99(11):2804-2821. Epub 2021 Jul 29 doi: 10.1002/jnr.24935. PMID: 34323313
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

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
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
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
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
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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