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Abnormal brain morphology

MedGen UID:
866738
Concept ID:
C4021085
Anatomical Abnormality
Synonym: Abnormality of brain morphology
 
HPO: HP:0012443

Definition

A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal brain morphology

Conditions with this feature

Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
MedGen UID:
1684757
Concept ID:
C5231470
Disease or Syndrome
Neurodevelopmental disorder with nonspecific brain abnormalities is a highly variable syndrome characterized by impaired intellectual development and behavioral abnormalities associated with structural changes on brain imaging. Some patients have seizures, hypotonia, and scoliosis/kyphosis. Cognitive function ranges from severely impaired to the ability to attend schools with special assistance (summary by Fischer-Zirnsak et al., 2019).
Developmental delay, hypotonia, and impaired language
MedGen UID:
1823975
Concept ID:
C5774202
Disease or Syndrome
Developmental delay, hypotonia, and impaired language (DEDHIL) is a neurodevelopmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties. Affected individuals may also have nonspecific dysmorphic facial features, gastrointestinal problems, and abnormalities on brain imaging (Stephenson et al., 2022).

Professional guidelines

PubMed

Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article
Hemachudha T, Ugolini G, Wacharapluesadee S, Sungkarat W, Shuangshoti S, Laothamatas J
Lancet Neurol 2013 May;12(5):498-513. doi: 10.1016/S1474-4422(13)70038-3. PMID: 23602163
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

Hafizi S, Guma E, Koppel A, Da Silva T, Kiang M, Houle S, Wilson AA, Rusjan PM, Chakravarty MM, Mizrahi R
Brain Behav Immun 2018 Nov;74:79-85. Epub 2018 Jun 12 doi: 10.1016/j.bbi.2018.06.009. PMID: 29906515Free PMC Article
Reinders AATS, Chalavi S, Schlumpf YR, Vissia EM, Nijenhuis ERS, Jäncke L, Veltman DJ, Ecker C
Acta Psychiatr Scand 2018 Feb;137(2):157-170. Epub 2017 Dec 27 doi: 10.1111/acps.12839. PMID: 29282709
Iritani S
Nagoya J Med Sci 2013 Feb;75(1-2):11-28. PMID: 23544264Free PMC Article
Sago H, Chen E, Conte WJ, Cox VA, Goldberg JD, Lebo RV, Golabi M
Am J Med Genet 1997 Oct 31;72(3):343-6. doi: 10.1002/(sici)1096-8628(19971031)72:3<343::aid-ajmg18>3.0.co;2-t. PMID: 9332667
Lieberman JA, Jody D, Alvir JM, Ashtari M, Levy DL, Bogerts B, Degreef G, Mayerhoff DI, Cooper T
Arch Gen Psychiatry 1993 May;50(5):357-68. doi: 10.1001/archpsyc.1993.01820170035005. PMID: 8489325

Diagnosis

Park KM, Kim SE, Lee BI, Hur YJ
Eur Neurol 2018;80(5-6):236-244. Epub 2019 Jan 18 doi: 10.1159/000496698. PMID: 30661063
Sundaram S, Huq AH, Hsia T, Chugani H
Pediatr Res 2014 Mar;75(3):443-7. Epub 2013 Dec 6 doi: 10.1038/pr.2013.234. PMID: 24321989Free PMC Article
Iritani S
Nagoya J Med Sci 2013 Feb;75(1-2):11-28. PMID: 23544264Free PMC Article
Milstein AC
J Law Med Ethics 2008 Summer;36(2):356-60, 214. doi: 10.1111/j.1748-720X.2008.00280.x. PMID: 18547205
Lieberman JA, Jody D, Alvir JM, Ashtari M, Levy DL, Bogerts B, Degreef G, Mayerhoff DI, Cooper T
Arch Gen Psychiatry 1993 May;50(5):357-68. doi: 10.1001/archpsyc.1993.01820170035005. PMID: 8489325

Therapy

Lepage JF, Mazaika PK, Hong DS, Raman M, Reiss AL
Cereb Cortex 2013 Sep;23(9):2159-68. Epub 2012 Jul 17 doi: 10.1093/cercor/bhs195. PMID: 22806268Free PMC Article
Milstein AC
J Law Med Ethics 2008 Summer;36(2):356-60, 214. doi: 10.1111/j.1748-720X.2008.00280.x. PMID: 18547205
Hellewell JS
J Clin Psychiatry 1999;60 Suppl 23:14-9. PMID: 10625195
Konovalov HV, Kovetsky NS, Bobryshev YV, Ashwell KW
Early Hum Dev 1997 Apr 25;48(1-2):153-66. doi: 10.1016/s0378-3782(96)01848-8. PMID: 9131316
Sandyk R, Kay SR
Int J Neurosci 1991 Jan-Feb;56(1-4):107-39. doi: 10.3109/00207459108985409. PMID: 1938127

Prognosis

Wu WC, Liang XY, Zhang DM, Jin L, Liu ZG, Zeng XL, Zhai QX, Liao WP, He N, Meng XH
Seizure 2024 Mar;116:119-125. Epub 2023 Oct 27 doi: 10.1016/j.seizure.2023.10.010. PMID: 37903666
Gutierrez Becker B, Klein T, Wachinger C; Alzheimer’s Disease Neuroimaging Initiative and the Australian Imaging Biomarkers and Lifestyle flagship study of ageing
Neuroimage 2018 Jul 15;175:246-258. Epub 2018 Apr 5 doi: 10.1016/j.neuroimage.2018.03.075. PMID: 29627589
Iritani S
Nagoya J Med Sci 2013 Feb;75(1-2):11-28. PMID: 23544264Free PMC Article

Clinical prediction guides

Wu WC, Liang XY, Zhang DM, Jin L, Liu ZG, Zeng XL, Zhai QX, Liao WP, He N, Meng XH
Seizure 2024 Mar;116:119-125. Epub 2023 Oct 27 doi: 10.1016/j.seizure.2023.10.010. PMID: 37903666
Mariano V, Kanellopoulos AK, Ricci C, Di Marino D, Borrie SC, Dupraz S, Bradke F, Achsel T, Legius E, Odent S, Billuart P, Bienvenu T, Bagni C
Biol Psychiatry 2024 Jan 15;95(2):161-174. Epub 2023 Sep 11 doi: 10.1016/j.biopsych.2023.08.027. PMID: 37704042
Hafizi S, Guma E, Koppel A, Da Silva T, Kiang M, Houle S, Wilson AA, Rusjan PM, Chakravarty MM, Mizrahi R
Brain Behav Immun 2018 Nov;74:79-85. Epub 2018 Jun 12 doi: 10.1016/j.bbi.2018.06.009. PMID: 29906515Free PMC Article
Gutierrez Becker B, Klein T, Wachinger C; Alzheimer’s Disease Neuroimaging Initiative and the Australian Imaging Biomarkers and Lifestyle flagship study of ageing
Neuroimage 2018 Jul 15;175:246-258. Epub 2018 Apr 5 doi: 10.1016/j.neuroimage.2018.03.075. PMID: 29627589
Iritani S
Nagoya J Med Sci 2013 Feb;75(1-2):11-28. PMID: 23544264Free PMC Article

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