U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal forebrain morphology

MedGen UID:
866620
•Concept ID:
C4020967
•
Anatomical Abnormality
Synonyms: Abnormal shape of forebrain; Abnormality of forebrain morphology; Abnormality of the forebrain
 
HPO: HP:0100547

Definition

An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal forebrain morphology

Professional guidelines

PubMed

A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies.
Kang Y, Zhou Y, Li Y, Han Y, Xu J, Niu W, Li Z, Liu S, Feng H, Huang W, Duan R, Xu T, Raj N, Zhang F, Dou J, Xu C, Wu H, Bassell GJ, Warren ST, Allen EG, Jin P, Wen Z
Nat Neurosci 2021 Oct;24(10):1377-1391. Epub 2021 Aug 19 doi: 10.1038/s41593-021-00913-6. PMID: 34413513Free PMC Article
Prenatal diagnosis of holoprosencephaly.
Kousa YA, du Plessis AJ, Vezina G
Am J Med Genet C Semin Med Genet 2018 Jun;178(2):206-213. Epub 2018 May 17 doi: 10.1002/ajmg.c.31618. PMID: 29770996
Central post-stroke pain: clinical characteristics, pathophysiology, and management.
Klit H, Finnerup NB, Jensen TS
Lancet Neurol 2009 Sep;8(9):857-68. doi: 10.1016/S1474-4422(09)70176-0. PMID: 19679277

Recent clinical studies

Etiology

Disorders of Ventral Induction/Spectrum of Holoprosencephaly.
Calloni SF, Caschera L, Triulzi FM
Neuroimaging Clin N Am 2019 Aug;29(3):411-421. Epub 2019 Apr 13 doi: 10.1016/j.nic.2019.03.003. PMID: 31256862
The neuroanatomy of autism - a developmental perspective.
Donovan AP, Basson MA
J Anat 2017 Jan;230(1):4-15. Epub 2016 Sep 12 doi: 10.1111/joa.12542. PMID: 27620360Free PMC Article
Neuronal migration disorders.
Guerrini R, Parrini E
Neurobiol Dis 2010 May;38(2):154-66. Epub 2009 Feb 23 doi: 10.1016/j.nbd.2009.02.008. PMID: 19245832
Prenatal stroke.
Govaert P
Semin Fetal Neonatal Med 2009 Oct;14(5):250-66. Epub 2009 Aug 6 doi: 10.1016/j.siny.2009.07.008. PMID: 19664975
Genetics of septo-optic dysplasia.
Kelberman D, Dattani MT
Pituitary 2007;10(4):393-407. doi: 10.1007/s11102-007-0055-5. PMID: 17587179

Diagnosis

Brainstem dysgenesis: beyond Moebius syndrome.
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
Imaging of Congenital Malformations.
McVige JW
Continuum (Minneap Minn) 2016 Oct;22(5, Neuroimaging):1480-1498. doi: 10.1212/CON.0000000000000379. PMID: 27740985
A developmental and genetic classification for malformations of cortical development: update 2012.
Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB
Brain 2012 May;135(Pt 5):1348-69. Epub 2012 Mar 16 doi: 10.1093/brain/aws019. PMID: 22427329Free PMC Article
Septo-optic dysplasia.
Ferran Kd, Paiva IA, Gilban DL, Resende M, Souza MA, Beserra IC, Guimarães MM
Arq Neuropsiquiatr 2010 Jun;68(3):400-5. doi: 10.1590/s0004-282x2010000300014. PMID: 20602044
Prenatal stroke.
Govaert P
Semin Fetal Neonatal Med 2009 Oct;14(5):250-66. Epub 2009 Aug 6 doi: 10.1016/j.siny.2009.07.008. PMID: 19664975

Therapy

Antisense oligonucleotide therapeutic approach for Timothy syndrome.
Chen X, Birey F, Li MY, Revah O, Levy R, Thete MV, Reis N, Kaganovsky K, Onesto M, Sakai N, Hudacova Z, Hao J, Meng X, Nishino S, Huguenard J, Pașca SP
Nature 2024 Apr;628(8009):818-825. Epub 2024 Apr 24 doi: 10.1038/s41586-024-07310-6. PMID: 38658687Free PMC Article
A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies.
Kang Y, Zhou Y, Li Y, Han Y, Xu J, Niu W, Li Z, Liu S, Feng H, Huang W, Duan R, Xu T, Raj N, Zhang F, Dou J, Xu C, Wu H, Bassell GJ, Warren ST, Allen EG, Jin P, Wen Z
Nat Neurosci 2021 Oct;24(10):1377-1391. Epub 2021 Aug 19 doi: 10.1038/s41593-021-00913-6. PMID: 34413513Free PMC Article
Rescuing Over-activated Microglia Restores Cognitive Performance in Juvenile Animals of the Dp(16) Mouse Model of Down Syndrome.
Pinto B, Morelli G, Rastogi M, Savardi A, Fumagalli A, Petretto A, Bartolucci M, Varea E, Catelani T, Contestabile A, Perlini LE, Cancedda L
Neuron 2020 Dec 9;108(5):887-904.e12. Epub 2020 Oct 6 doi: 10.1016/j.neuron.2020.09.010. PMID: 33027640Free PMC Article
Dystonia.
Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP
Nat Rev Dis Primers 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6. PMID: 30237473
Functional organization of the basal ganglia: therapeutic implications for Parkinson's disease.
Obeso JA, Rodríguez-Oroz MC, Benitez-Temino B, Blesa FJ, Guridi J, Marin C, Rodriguez M
Mov Disord 2008;23 Suppl 3:S548-59. doi: 10.1002/mds.22062. PMID: 18781672

Prognosis

Disorders of Ventral Induction/Spectrum of Holoprosencephaly.
Calloni SF, Caschera L, Triulzi FM
Neuroimaging Clin N Am 2019 Aug;29(3):411-421. Epub 2019 Apr 13 doi: 10.1016/j.nic.2019.03.003. PMID: 31256862
Congenital Achiasma.
Lecler A, Attye A, Edelson C
J Neuroophthalmol 2018 Sep;38(3):344-346. doi: 10.1097/WNO.0000000000000650. PMID: 29561327
Brainstem dysgenesis: beyond Moebius syndrome.
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
Holoprosencephaly sequence.
Coletă E, Siminel M, Gheonea M
Rom J Morphol Embryol 2011;52(2):725-8. PMID: 21655669
Retrosplenial amnesia.
Valenstein E, Bowers D, Verfaellie M, Heilman KM, Day A, Watson RT
Brain 1987 Dec;110 ( Pt 6):1631-46. doi: 10.1093/brain/110.6.1631. PMID: 3427404

Clinical prediction guides

A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies.
Kang Y, Zhou Y, Li Y, Han Y, Xu J, Niu W, Li Z, Liu S, Feng H, Huang W, Duan R, Xu T, Raj N, Zhang F, Dou J, Xu C, Wu H, Bassell GJ, Warren ST, Allen EG, Jin P, Wen Z
Nat Neurosci 2021 Oct;24(10):1377-1391. Epub 2021 Aug 19 doi: 10.1038/s41593-021-00913-6. PMID: 34413513Free PMC Article
From anatomy to function: the role of the somatosensory cortex in emotional regulation.
Kropf E, Syan SK, Minuzzi L, Frey BN
Braz J Psychiatry 2019 May-Jun;41(3):261-269. Epub 2018 Dec 6 doi: 10.1590/1516-4446-2018-0183. PMID: 30540029Free PMC Article
The basal ganglia and the cerebellum: nodes in an integrated network.
Bostan AC, Strick PL
Nat Rev Neurosci 2018 Jun;19(6):338-350. doi: 10.1038/s41583-018-0002-7. PMID: 29643480Free PMC Article
Assembly of functionally integrated human forebrain spheroids.
Birey F, Andersen J, Makinson CD, Islam S, Wei W, Huber N, Fan HC, Metzler KRC, Panagiotakos G, Thom N, O'Rourke NA, Steinmetz LM, Bernstein JA, Hallmayer J, Huguenard JR, Paşca SP
Nature 2017 May 4;545(7652):54-59. Epub 2017 Apr 26 doi: 10.1038/nature22330. PMID: 28445465Free PMC Article
The neuroanatomy of autism - a developmental perspective.
Donovan AP, Basson MA
J Anat 2017 Jan;230(1):4-15. Epub 2016 Sep 12 doi: 10.1111/joa.12542. PMID: 27620360Free PMC Article

Recent systematic reviews

Postoperative seizure and memory outcome of temporal lobe epilepsy with hippocampal sclerosis: A systematic review.
Li Y, Liu P, Lin Q, Zhou D, An D
Epilepsia 2023 Nov;64(11):2845-2860. Epub 2023 Sep 30 doi: 10.1111/epi.17757. PMID: 37611927
Incomplete hippocampal inversion and epilepsy: A systematic review and meta-analysis.
Mutti C, Riccò M, Bartolini Y, Bernabè G, Trippi I, Melpignano A, Ciliento R, Zinno L, Florindo I, Sasso E, Odone A, Parrino L, Vaudano AE
Epilepsia 2021 Feb;62(2):383-396. Epub 2020 Dec 16 doi: 10.1111/epi.16787. PMID: 33325054
Neuroimaging hippocampal subfields in schizophrenia and bipolar disorder: A systematic review and meta-analysis.
Haukvik UK, Tamnes CK, Söderman E, Agartz I
J Psychiatr Res 2018 Sep;104:217-226. Epub 2018 Aug 7 doi: 10.1016/j.jpsychires.2018.08.012. PMID: 30107268
Pituitary dysfunction in granulomatosis with polyangiitis.
Esposito D, Trimpou P, Giugliano D, Dehlin M, Ragnarsson O
Pituitary 2017 Oct;20(5):594-601. doi: 10.1007/s11102-017-0811-0. PMID: 28540625Free PMC Article
Diffusion tensor imaging in schizophrenia.
Kanaan RA, Kim JS, Kaufmann WE, Pearlson GD, Barker GJ, McGuire PK
Biol Psychiatry 2005 Dec 15;58(12):921-9. Epub 2005 Jul 25 doi: 10.1016/j.biopsych.2005.05.015. PMID: 16043134

Supplemental Content

Table of contents

    Clinical resources

    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.

    Consumer resources

    Reviews

    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...