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Isolated congenital microcephaly

MedGen UID:: 44422
•Concept ID:: C0025958
•: Congenital Abnormality

Synonyms:	Microcephalies; Microcephaly

Monarch Initiative:	MONDO:0016056
Orphanet:	ORPHA199642

Definition

A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems. [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVIsolated congenital microcephaly

Neurodevelopmental disorder
- Developmental disorder
  - Neurodevelopmental disorder
    - Developmental disorder
      - Neurodevelopmental disorder
        Brain Development Abnormality
        Isolated congenital microcephaly
        Autosomal dominant primary microcephaly
        Autosomal recessive primary microcephaly
        Microcephalic primordial dwarfism due to ZNF335 deficiency
        Microcephaly 1, primary, autosomal recessive
        Microcephaly 11, primary, autosomal recessive
        Microcephaly 12, primary, autosomal recessive
        Microcephaly 13, primary, autosomal recessive
        Microcephaly 14, primary, autosomal recessive
        Microcephaly 15, primary, autosomal recessive
        Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
        Microcephaly 3, primary, autosomal recessive
        Microcephaly 4, primary, autosomal recessive
        Microcephaly 5, primary, autosomal recessive
        Microcephaly 6, primary, autosomal recessive
        Microcephaly 7, primary, autosomal recessive
        Microcephaly 8, primary, autosomal recessive
        Microcephaly 9, primary, autosomal recessive
        Porencephaly
        Acquired porencephaly
        Familial porencephaly
        Primary microcephaly

Follow this link to review classifications for Isolated congenital microcephaly in Orphanet.

Professional guidelines

PubMed

Zika virus and reproduction: facts, questions and current management.

Epelboin S, Dulioust E, Epelboin L, Benachi A, Merlet F, Patrat C
Hum Reprod Update 2017 Nov 1;23(6):629-645. doi: 10.1093/humupd/dmx024. PMID: 28961800

Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.

Malikova J, Flück CE
Horm Res Paediatr 2014;82(3):145-57. Epub 2014 Aug 1 doi: 10.1159/000363107. PMID: 25096886

Prenatal neurologic anomalies: sonographic diagnosis and treatment.

De Catte L, De Keersmaeker B, Claus F
Paediatr Drugs 2012 Jun 1;14(3):143-55. doi: 10.2165/11597030-000000000-00000. PMID: 22242843

See all (7)

Recent clinical studies

Etiology

Clinical spectrum of congenital Zika virus infection in Brazil: Update and issues for research development.

Martelli CMT, Cortes F, Brandão-Filho SP, Turchi MD, Souza WV, Araújo TVB, Ximenes RAA, Miranda-Filho DB
Rev Soc Bras Med Trop 2024;57:e00301. Epub 2024 Jul 29 doi: 10.1590/0037-8682-0153-2024. PMID: 39082517 Free PMC Article

Prevalence of congenital microcephaly and its risk factors in an area at risk of Zika outbreaks.

Shen S, Xiao W, Zhang L, Lu J, Funk A, He J, Tu S, Yu J, Yang L, Fontanet A, Bao W, Cheng KK, Qiu X
BMC Pregnancy Childbirth 2021 Mar 17;21(1):214. doi: 10.1186/s12884-021-03705-9. PMID: 33731027 Free PMC Article

Zika Virus Pathogenesis: From Early Case Reports to Epidemics.

Pardy RD, Richer MJ
Viruses 2019 Sep 21;11(10) doi: 10.3390/v11100886. PMID: 31546589 Free PMC Article

Toxoplasmosis in humans and animals in Brazil: high prevalence, high burden of disease, and epidemiology.

Dubey JP, Lago EG, Gennari SM, Su C, Jones JL
Parasitology 2012 Sep;139(11):1375-424. Epub 2012 Jul 10 doi: 10.1017/S0031182012000765. PMID: 22776427

Lactic acidaemia.

Robinson BH, Sherwood WG
J Inherit Metab Dis 1984;7 Suppl 1:69-73. doi: 10.1007/BF03047378. PMID: 6434848

See all (121)

Diagnosis

PfAgo-Based Zika Virus Detection.

Chen Y, Zhang X, Yang X, Su L, Chen W, Zhao J, Hu Y, Wang Y, Wu Y, Dong Y
Viruses 2024 Mar 30;16(4) doi: 10.3390/v16040539. PMID: 38675882 Free PMC Article

Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.

Asif M, Abdullah U, Nürnberg P, Tinschert S, Hussain MS
Cells 2023 Feb 16;12(4) doi: 10.3390/cells12040642. PMID: 36831309 Free PMC Article

Microcephaly, an etiopathogenic vision.

Becerra-Solano LE, Mateos-Sánchez L, López-Muñoz E
Pediatr Neonatol 2021 Jul;62(4):354-360. Epub 2021 May 25 doi: 10.1016/j.pedneo.2021.05.008. PMID: 34112604

Zika Virus.

Musso D, Gubler DJ
Clin Microbiol Rev 2016 Jul;29(3):487-524. doi: 10.1128/CMR.00072-15. PMID: 27029595 Free PMC Article

Lactic acidaemia.

Robinson BH, Sherwood WG
J Inherit Metab Dis 1984;7 Suppl 1:69-73. doi: 10.1007/BF03047378. PMID: 6434848

See all (158)

Therapy

Antenatal imaging and clinical outcome in congenital CMV infection: A field-wide systematic review and meta-analysis.

Kyriakopoulou A, Serghiou S, Dimopoulou D, Arista I, Psaltopoulou T, Dinopoulos A, Papaevangelou V
J Infect 2020 Apr;80(4):407-418. Epub 2020 Feb 23 doi: 10.1016/j.jinf.2020.02.012. PMID: 32097687

Zika virus: a cause of concern in transplantation?

Levi ME
Curr Opin Infect Dis 2017 Aug;30(4):340-345. doi: 10.1097/QCO.0000000000000384. PMID: 28632511

Maternal immune correlates of protection against placental transmission of cytomegalovirus.

Itell HL, Nelson CS, Martinez DR, Permar SR
Placenta 2017 Dec;60 Suppl 1(Suppl 1):S73-S79. Epub 2017 Apr 20 doi: 10.1016/j.placenta.2017.04.011. PMID: 28456432 Free PMC Article

Zika Virus Pathogenesis and Tissue Tropism.

Miner JJ, Diamond MS
Cell Host Microbe 2017 Feb 8;21(2):134-142. doi: 10.1016/j.chom.2017.01.004. PMID: 28182948 Free PMC Article

Congenital cytomegalovirus infection: new prospects for prevention and therapy.

Swanson EC, Schleiss MR
Pediatr Clin North Am 2013 Apr;60(2):335-49. doi: 10.1016/j.pcl.2012.12.008. PMID: 23481104 Free PMC Article

See all (21)

Prognosis

Routine 36-week scan: diagnosis of fetal abnormalities.

Syngelaki A, Mitsigiorgi R, Goadsby J, Hamed K, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2025 Apr;65(4):427-435. Epub 2025 Mar 25 doi: 10.1002/uog.29218. PMID: 40131231 Free PMC Article

Zika-exposed microcephalic neonates exhibit higher degree of inflammatory imbalance in cerebrospinal fluid.

Nascimento-Carvalho GC, Nascimento-Carvalho EC, Ramos CL, Vilas-Boas AL, Moreno-Carvalho OA, Vinhaes CL, Barreto-Duarte B, Queiroz ATL, Andrade BB, Nascimento-Carvalho CM
Sci Rep 2021 Apr 19;11(1):8474. doi: 10.1038/s41598-021-87895-4. PMID: 33875756 Free PMC Article

Population-based surveillance of severe microcephaly and congenital Zika syndrome in Canada.

Morris SK, Farrar DS, Miller SP, Ofner M, Bitnun A, Nelson CRM, Shevell M, Moore AM, Tataryn J, Evans JA, Zipursky AR, Moore Hepburn C
Arch Dis Child 2021 Sep;106(9):855-861. Epub 2021 Jan 8 doi: 10.1136/archdischild-2020-320968. PMID: 33419730

Detecting Vertical Zika Transmission: Emerging Diagnostic Approaches for an Emerged Flavivirus.

Collins MH, Waggoner JJ
ACS Infect Dis 2019 Jul 12;5(7):1055-1069. Epub 2019 Apr 17 doi: 10.1021/acsinfecdis.9b00003. PMID: 30951637

Zika virus infection in children: epidemiology and clinical manifestations.

da Silva Pone MV, Moura Pone S, Araujo Zin A, Barros Mendes PH, Senra Aibe M, Barroso de Aguiar E, de Oliveira Gomes da Silva T
Childs Nerv Syst 2018 Jan;34(1):63-71. Epub 2017 Nov 6 doi: 10.1007/s00381-017-3635-3. PMID: 29110197

See all (59)

Clinical prediction guides

Population-based surveillance of severe microcephaly and congenital Zika syndrome in Canada.

Antenatal imaging and clinical outcome in congenital CMV infection: A field-wide systematic review and meta-analysis.

Kyriakopoulou A, Serghiou S, Dimopoulou D, Arista I, Psaltopoulou T, Dinopoulos A, Papaevangelou V
J Infect 2020 Apr;80(4):407-418. Epub 2020 Feb 23 doi: 10.1016/j.jinf.2020.02.012. PMID: 32097687

Auditory findings associated with Zika virus infection: an integrative review.

Barbosa MHM, Magalhães-Barbosa MC, Robaina JR, Prata-Barbosa A, Lima MAMT, Cunha AJLAD
Braz J Otorhinolaryngol 2019 Sep-Oct;85(5):642-663. Epub 2019 Jun 18 doi: 10.1016/j.bjorl.2019.05.002. PMID: 31296482 Free PMC Article

Zika Virus Pathogenesis and Tissue Tropism.

Miner JJ, Diamond MS
Cell Host Microbe 2017 Feb 8;21(2):134-142. doi: 10.1016/j.chom.2017.01.004. PMID: 28182948 Free PMC Article

Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.

Brosens E, Ploeg M, van Bever Y, Koopmans AE, IJsselstijn H, Rottier RJ, Wijnen R, Tibboel D, de Klein A
Eur J Med Genet 2014 Aug;57(8):440-52. Epub 2014 Jun 13 doi: 10.1016/j.ejmg.2014.05.009. PMID: 24931924

See all (67)

Recent systematic reviews

Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.

Mahmoud A, Pomar L, Lambert V, Picone O, Hcini N
Ocul Immunol Inflamm 2024 Nov;32(9):2217-2227. Epub 2024 Feb 13 doi: 10.1080/09273948.2024.2314086. PMID: 38350011

Antenatal imaging and clinical outcome in congenital CMV infection: A field-wide systematic review and meta-analysis.

Kyriakopoulou A, Serghiou S, Dimopoulou D, Arista I, Psaltopoulou T, Dinopoulos A, Papaevangelou V
J Infect 2020 Apr;80(4):407-418. Epub 2020 Feb 23 doi: 10.1016/j.jinf.2020.02.012. PMID: 32097687

Zika in travellers 1947-2017: a systematic review.

Wilder-Smith A, Chang CR, Leong WY
J Travel Med 2018 Jul 1;25(1) doi: 10.1093/jtm/tay044. PMID: 30016469

See all (3)

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Isolated congenital microcephaly

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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