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Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

MedGen UID:
1653942
Concept ID:
C4750772
Disease or Syndrome
Synonyms: Microcephaly, polymicrogyria, corpus callosum agenesis syndrome; microcephaly-polymicrogyria-corpus callosum agenesis syndrome
SNOMED CT: Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (773305003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0015745
Orphanet: ORPHA171703

Definition

A rare genetic central nervous system malformation syndrome with characteristics of marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrocephaly-polymicrogyria-corpus callosum agenesis syndrome

Professional guidelines

PubMed

Yu QX, Jing XY, Lin XM, Zhen L, Li DZ
Prenat Diagn 2022 Nov;42(12):1488-1492. Epub 2022 Jul 18 doi: 10.1002/pd.6213. PMID: 35801292
Mandel AM
Handb Clin Neurol 2020;171:291-311. doi: 10.1016/B978-0-444-64239-4.00015-1. PMID: 32736756
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

Recent clinical studies

Etiology

Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H
Orphanet J Rare Dis 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x. PMID: 26927810Free PMC Article
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Diagnosis

Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Sataite I, Cudlip S, Jayamohan J, Ganau M
Handb Clin Neurol 2021;181:51-64. doi: 10.1016/B978-0-12-820683-6.00005-1. PMID: 34238479
Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H
Orphanet J Rare Dis 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x. PMID: 26927810Free PMC Article
Singh P, Goraya JS, Saggar K, Ahluwalia A
Singapore Med J 2012 Jul;53(7):e153-5. PMID: 22815034
Mowat DR, Wilson MJ, Goossens M
J Med Genet 2003 May;40(5):305-10. doi: 10.1136/jmg.40.5.305. PMID: 12746390Free PMC Article

Therapy

Pinto SN, Liu CJ, Nelson MD Jr, Bluml S, Livingston D, Tamrazi B
J Neuroimaging 2023 Sep-Oct;33(5):703-715. Epub 2023 Jun 16 doi: 10.1111/jon.13138. PMID: 37327044
Ong CS, Gao JL, Tan YJ
J Neurol Sci 2022 Nov 15;442:120444. Epub 2022 Sep 30 doi: 10.1016/j.jns.2022.120444. PMID: 36208584
Frank Y
Pediatr Neurol 2021 Sep;122:59-64. Epub 2021 Jun 16 doi: 10.1016/j.pediatrneurol.2021.06.002. PMID: 34325981
Gujral S, Aizenstein H, Reynolds CF 3rd, Butters MA, Erickson KI
Gen Hosp Psychiatry 2017 Nov;49:2-10. doi: 10.1016/j.genhosppsych.2017.04.012. PMID: 29122145Free PMC Article
Mathur S, Mathur A, Dubey T, Jain S, Mathur S, Agarwal H, Kulshrestha M, Jangid R, Ram C
J Assoc Physicians India 2013 Jun;61(6):418-20. PMID: 24640213

Prognosis

Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R
Brain 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831Free PMC Article
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Cordelli DM, Di Pisa V, Fetta A, Garavelli L, Maltoni L, Soliani L, Ricci E
Genes (Basel) 2021 Jun 27;12(7) doi: 10.3390/genes12070982. PMID: 34199024Free PMC Article
Volpe P, Campobasso G, De Robertis V, Rembouskos G
Prenat Diagn 2009 Apr;29(4):340-54. doi: 10.1002/pd.2208. PMID: 19184971
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Clinical prediction guides

Jańczewska I, Preis-Orlikowska J, Domżalska-Popadiuk I, Preis K, Jańczewska A
Neurol Neurochir Pol 2023;57(3):269-281. Epub 2023 Apr 20 doi: 10.5603/PJNNS.a2023.0026. PMID: 37078131
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R
Brain 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831Free PMC Article
Ong CS, Gao JL, Tan YJ
J Neurol Sci 2022 Nov 15;442:120444. Epub 2022 Sep 30 doi: 10.1016/j.jns.2022.120444. PMID: 36208584
Gujral S, Aizenstein H, Reynolds CF 3rd, Butters MA, Erickson KI
Gen Hosp Psychiatry 2017 Nov;49:2-10. doi: 10.1016/j.genhosppsych.2017.04.012. PMID: 29122145Free PMC Article
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Recent systematic reviews

Junior JHMF, Junior SP, Pustilnik HN, de Almeida Leão L, da Paz MGDS, Araujo TB, de Deus FOG, Alcântara T, Dourado JC, de Avellar LM
Childs Nerv Syst 2024 Jul;40(7):2161-2168. Epub 2024 Mar 9 doi: 10.1007/s00381-024-06346-3. PMID: 38459147
Yang JX, Yang MM, Han YJ, Gao CH, Cao J
Front Immunol 2023;14:1149987. Epub 2023 Apr 17 doi: 10.3389/fimmu.2023.1149987. PMID: 37138864Free PMC Article
Joigneau Prieto L, Ruiz Y, Pérez R, De León Luis J
Eur J Paediatr Neurol 2019 Nov;23(6):764-782. Epub 2019 Sep 25 doi: 10.1016/j.ejpn.2019.09.009. PMID: 31587959
Renkema RW, Caron CJJM, Wolvius EB, Dunaway DJ, Forrest CR, Padwa BL, Koudstaal MJ
Int J Oral Maxillofac Surg 2018 Jan;47(1):27-34. Epub 2017 Jul 20 doi: 10.1016/j.ijom.2017.06.009. PMID: 28736116
Khalil A, Bennet S, Thilaganathan B, Paladini D, Griffiths P, Carvalho JS
Ultrasound Obstet Gynecol 2016 Sep;48(3):296-307. doi: 10.1002/uog.15932. PMID: 27062519

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