U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Congenital malformation of corpus callosum

MedGen UID:
608958
•Concept ID:
C0431366
•
Congenital Abnormality
Synonym: Corpus callosum anomalies
SNOMED CT: Congenital anomaly of corpus callosum (204042007); Dysgenesis of corpus callosum (204042007); Congenital malformation of corpus callosum (204042007)

Professional guidelines

PubMed

Prenatal ultrasound for the diagnosis of the agenesis of corpus callosum: a meta-analysis.
Zhang Y
J Matern Fetal Neonatal Med 2023 Dec;36(2):2228454. doi: 10.1080/14767058.2023.2228454. PMID: 37365011
Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features?
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
Diagnosis and management of congenital neurologic disease during pregnancy.
Mandel AM
Handb Clin Neurol 2020;171:291-311. doi: 10.1016/B978-0-444-64239-4.00015-1. PMID: 32736756

Recent clinical studies

Etiology

Outcome of partial agenesis of corpus callosum.
De Keersmaecker B, Jansen K, Aertsen M, Naulaers G, De Catte L
Am J Obstet Gynecol 2024 Apr;230(4):456.e1-456.e9. Epub 2023 Oct 8 doi: 10.1016/j.ajog.2023.10.007. PMID: 37816486
Hydrocephalus in encephalocele.
Akyol ME, Çelegen I, Basar I, Arabacı O
Eur Rev Med Pharmacol Sci 2022 Aug;26(15):5399-5405. doi: 10.26355/eurrev_202208_29407. PMID: 35993634
Rhomboencephalosynapsis: Review of the Literature.
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
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
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
Mowat-Wilson syndrome.
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

Outcome of partial agenesis of corpus callosum.
De Keersmaecker B, Jansen K, Aertsen M, Naulaers G, De Catte L
Am J Obstet Gynecol 2024 Apr;230(4):456.e1-456.e9. Epub 2023 Oct 8 doi: 10.1016/j.ajog.2023.10.007. PMID: 37816486
Agenesis of the corpus callosum: What to tell expecting parents?
Tsai P, Shinar S
Prenat Diagn 2023 Nov;43(12):1527-1535. Epub 2023 Oct 4 doi: 10.1002/pd.6447. PMID: 37794643
Diagnosis and management of congenital neurologic disease during pregnancy.
Mandel AM
Handb Clin Neurol 2020;171:291-311. doi: 10.1016/B978-0-444-64239-4.00015-1. PMID: 32736756
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
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
Corpus callosum and epilepsies.
Unterberger I, Bauer R, Walser G, Bauer G
Seizure 2016 Apr;37:55-60. Epub 2016 Mar 3 doi: 10.1016/j.seizure.2016.02.012. PMID: 27010176

Therapy

Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta-analysis.
Mustafa HJ, Barbera JP, Sambatur EV, Pagani G, Yaron Y, Baptiste CD, Wapner RJ, Brewer CJ, Khalil A
Ultrasound Obstet Gynecol 2024 Mar;63(3):312-320. doi: 10.1002/uog.27440. PMID: 37519216
Prenatal ultrasound for the diagnosis of the agenesis of corpus callosum: a meta-analysis.
Zhang Y
J Matern Fetal Neonatal Med 2023 Dec;36(2):2228454. doi: 10.1080/14767058.2023.2228454. PMID: 37365011
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
The Neurological Manifestations of Phelan-McDermid Syndrome.
Frank Y
Pediatr Neurol 2021 Sep;122:59-64. Epub 2021 Jun 16 doi: 10.1016/j.pediatrneurol.2021.06.002. PMID: 34325981
Shapiro syndrome.
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

Outcome of partial agenesis of corpus callosum.
De Keersmaecker B, Jansen K, Aertsen M, Naulaers G, De Catte L
Am J Obstet Gynecol 2024 Apr;230(4):456.e1-456.e9. Epub 2023 Oct 8 doi: 10.1016/j.ajog.2023.10.007. PMID: 37816486
Agenesis of the corpus callosum: What to tell expecting parents?
Tsai P, Shinar S
Prenat Diagn 2023 Nov;43(12):1527-1535. Epub 2023 Oct 4 doi: 10.1002/pd.6447. PMID: 37794643
Hydrocephalus in encephalocele.
Akyol ME, Çelegen I, Basar I, Arabacı O
Eur Rev Med Pharmacol Sci 2022 Aug;26(15):5399-5405. doi: 10.26355/eurrev_202208_29407. PMID: 35993634
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B
Orphanet J Rare Dis 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. PMID: 30744660Free PMC Article
Mowat-Wilson syndrome.
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

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Nguyen T, Heide S, Guilbaud L, Valence S, Perre SV, Blondiaux E, Keren B, Quenum-Miraillet G, Jouannic JM, Mandelbrot L, Picone O, Guet A, Tsatsaris V, Milh M, Girard N, Vincent M, Nizon M, Poirsier C, Vivanti A, Benachi A, Portes VD, Guibaud L, Patat O, Spentchian M, Frugère L, Héron D, Garel C
Prenat Diagn 2023 Jun;43(6):746-755. Epub 2023 May 23 doi: 10.1002/pd.6382. PMID: 37173814
SPG11: clinical and genetic features of seven Czech patients and literature review.
Doleckova K, Roth J, Stellmachova J, Gescheidt T, Sigut V, Houska P, Jech R, Zech M, Vyhnalek M, Vyhnalkova E, Seeman P, Meszarosova AU
Neurol Res 2022 May;44(5):379-389. Epub 2022 Mar 7 doi: 10.1080/01616412.2021.1975224. PMID: 35254204
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B
Orphanet J Rare Dis 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. PMID: 30744660Free PMC Article
Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.
D'Antonio F, Pagani G, Familiari A, Khalil A, Sagies TL, Malinger G, Leibovitz Z, Garel C, Moutard ML, Pilu G, Bhide A, Acharya G, Leombroni M, Manzoli L, Papageorghiou A, Prefumo F
Pediatrics 2016 Sep;138(3) doi: 10.1542/peds.2016-0445. PMID: 27581855
Mowat-Wilson syndrome.
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

Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta-analysis.
Mustafa HJ, Barbera JP, Sambatur EV, Pagani G, Yaron Y, Baptiste CD, Wapner RJ, Brewer CJ, Khalil A
Ultrasound Obstet Gynecol 2024 Mar;63(3):312-320. doi: 10.1002/uog.27440. PMID: 37519216
Neurodevelopmental Outcomes following Prenatal Diagnosis of Isolated Corpus Callosum Agenesis: A Systematic Review.
Bernardes da Cunha S, Carneiro MC, Miguel Sa M, Rodrigues A, Pina C
Fetal Diagn Ther 2021;48(2):88-95. Epub 2021 Jan 29 doi: 10.1159/000512534. PMID: 33517337
Neuropathology of genetically defined malformations of cortical development-A systematic literature review.
Brock S, Cools F, Jansen AC
Neuropathol Appl Neurobiol 2021 Aug;47(5):585-602. Epub 2021 Feb 14 doi: 10.1111/nan.12696. PMID: 33480109Free PMC Article
Neuropsychological profile of agenesis of the corpus callosum: a systematic review.
Siffredi V, Anderson V, Leventer RJ, Spencer-Smith MM
Dev Neuropsychol 2013;38(1):36-57. doi: 10.1080/87565641.2012.721421. PMID: 23311314
Counseling in fetal medicine: agenesis of the corpus callosum.
Santo S, D'Antonio F, Homfray T, Rich P, Pilu G, Bhide A, Thilaganathan B, Papageorghiou AT
Ultrasound Obstet Gynecol 2012 Nov;40(5):513-21. doi: 10.1002/uog.12315. PMID: 23024003

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...