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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

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

Association Between Congenital Cytomegalovirus and the Prevalence at Birth of Microcephaly in the United States.

Messinger CJ, Lipsitch M, Bateman BT, He M, Huybrechts KF, MacDonald S, Mogun H, Mott K, Hernández-Díaz S
JAMA Pediatr 2020 Dec 1;174(12):1159-1167. doi: 10.1001/jamapediatrics.2020.3009. PMID: 32926077 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

Zika Virus Infection in Pregnancy, Microcephaly, and Maternal and Fetal Health: What We Think, What We Know, and What We Think We Know.

Alvarado MG, Schwartz DA
Arch Pathol Lab Med 2017 Jan;141(1):26-32. Epub 2016 Sep 16 doi: 10.5858/arpa.2016-0382-RA. PMID: 27636525

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

See all (117)

Diagnosis

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

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

Microcephaly and Zika virus: a clinical and epidemiological analysis of the current outbreak in Brazil.

Nunes ML, Carlini CR, Marinowic D, Neto FK, Fiori HH, Scotta MC, Zanella PL, Soder RB, da Costa JC
J Pediatr (Rio J) 2016 May-Jun;92(3):230-40. Epub 2016 Apr 15 doi: 10.1016/j.jped.2016.02.009. PMID: 27049675

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

See all (151)

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 (20)

Prognosis

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

Trends of the microcephaly and Zika virus outbreak in Brazil, January-July 2016.

Magalhães-Barbosa MC, Prata-Barbosa A, Robaina JR, Raymundo CE, Lima-Setta F, Cunha AJ
Travel Med Infect Dis 2016 Sep-Oct;14(5):458-463. Epub 2016 Oct 1 doi: 10.1016/j.tmaid.2016.09.006. PMID: 27702683

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 (57)

Clinical prediction guides

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

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

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 (66)

Recent systematic reviews

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 (2)

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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

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Practice guidelines

Consumer resources

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