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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: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	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]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHydrocephalus
- Congenital hydrocephalus

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Abnormality of the nervous system
        Congenital hydrocephalus
        Congenital communicating hydrocephalus
        Congenital non-communicating hydrocephalus
        Hydrocephalus, congenital, 3, with brain anomalies
        Hydrocephalus, nonsyndromic, autosomal recessive 1
        Hydrocephalus, nonsyndromic, autosomal recessive 2

Follow this link to review classifications for Congenital hydrocephalus in Orphanet.

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

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

Early prenatal diagnosis of hydrocephalus.

Reece EA, Goldstein I
Am J Perinatol 1997 Feb;14(2):69-73. doi: 10.1055/s-2007-994100. PMID: 9259901

See all (23)

Recent clinical studies

Etiology

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: 35379995 Free PMC Article

Fetal therapy for congenital hydrocephalus-where we came from and where we are going.

Peiro JL, Fabbro MD
Childs Nerv Syst 2020 Aug;36(8):1697-1712. Epub 2020 Jun 29 doi: 10.1007/s00381-020-04738-9. PMID: 32601902

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

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: 27815765 Free PMC Article

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

See all (229)

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

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

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

See all (260)

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: 37991765 Free 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: 27815765 Free 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

See all (133)

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

PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets.

DeSpenza T Jr, Carlson M, Panchagnula S, Robert S, Duy PQ, Mermin-Bunnell N, Reeves BC, Kundishora A, Elsamadicy AA, Smith H, Ocken J, Alper SL, Jin SC, Hoffman EJ, Kahle KT
Trends Neurosci 2021 Dec;44(12):961-976. Epub 2021 Oct 5 doi: 10.1016/j.tins.2021.08.007. PMID: 34625286 Free 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

Olfactory Development, Part 2: Neuroanatomic Maturation and Dysgeneses.

Sarnat HB, Flores-Sarnat L
J Child Neurol 2017 May;32(6):579-593. Epub 2017 Feb 19 doi: 10.1177/0883073816685192. PMID: 28424008

See all (142)

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: 39135208 Free PMC Article

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: 37991765 Free 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: 33157092 Free 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: 27815765 Free PMC Article

See all (129)

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: 37991765 Free 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

See all (7)

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Congenital hydrocephalus

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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