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Complex cortical dysplasia with other brain malformations 3(CDCBM3)

MedGen UID:
815744
Concept ID:
C3809414
Disease or Syndrome
Synonyms: CDCBM3; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
 
Gene (location): KIF2A (5q12.1)
 
Monarch Initiative: MONDO:0014170
OMIM®: 615411

Definition

Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene. [from MONDO]

Clinical features

From HPO
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Lissencephaly
MedGen UID:
78604
Concept ID:
C0266463
Finding
A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Macrogyria
MedGen UID:
120579
Concept ID:
C0266483
Congenital Abnormality
Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Gray matter heterotopia
MedGen UID:
452349
Concept ID:
C0266491
Finding
Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Spastic tetraplegia
MedGen UID:
98433
Concept ID:
C0426970
Disease or Syndrome
Spastic paralysis affecting all four limbs.
Cortical dysplasia
MedGen UID:
98129
Concept ID:
C0431380
Congenital Abnormality
The presence of developmental dysplasia of the cerebral cortex.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Subcortical band heterotopia
MedGen UID:
336288
Concept ID:
C1848201
Disease or Syndrome
Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development. (Heterotopia means "out of place.") Normally, the neurons that make up the outer surface of the brain (cerebral cortex) are distributed in a well-organized and multi-layered way. In people with subcortical band heterotopia, some neurons that should be part of the cerebral cortex do not reach it. These neurons stop their migration process in areas of the brain where they are not supposed to be and form band-like clusters of tissue. Since these bands are located beneath the cerebral cortex, they are said to be subcortical. In most cases, the bands are symmetric, which means they occur in the same places on the right and left sides of the brain.\n\nThe abnormal brain development causes neurological problems in people with subcortical band heterotopia. The signs and symptoms of the condition depend on the size of the bands and the lack of development of the cerebral cortex. The signs and symptoms can vary from severe intellectual disability and seizures that begin early in life and affect both sides of the brain (generalized seizures) to normal intelligence with seizures occurring later in life and affecting only one side of the brain (focal seizures). Some affected individuals also have weak muscle tone (hypotonia), loss of fine motor skills such as using utensils, or behavioral problems. Subcortical band heterotopia is typically found when brain imaging is done following the onset of seizures, usually in adolescence or early adulthood.
Agyria
MedGen UID:
361827
Concept ID:
C1879312
Congenital Abnormality
A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.
Thin corpus callosum
MedGen UID:
1785336
Concept ID:
C5441562
Anatomical Abnormality
An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

Professional guidelines

PubMed

Curatolo P, Trivisano M, Specchio N
Semin Pediatr Neurol 2023 Oct;47:101086. Epub 2023 Sep 18 doi: 10.1016/j.spen.2023.101086. PMID: 37919037
Samuels JA
Clin J Am Soc Nephrol 2017 Jul 7;12(7):1196-1202. Epub 2017 Mar 16 doi: 10.2215/CJN.08150816. PMID: 28302901Free PMC Article
Curatolo P, Moavero R, Roberto D, Graziola F
Semin Pediatr Neurol 2015 Dec;22(4):259-73. Epub 2015 Oct 21 doi: 10.1016/j.spen.2015.10.002. PMID: 26706013

Recent clinical studies

Etiology

Curatolo P, Trivisano M, Specchio N
Semin Pediatr Neurol 2023 Oct;47:101086. Epub 2023 Sep 18 doi: 10.1016/j.spen.2023.101086. PMID: 37919037
Shephard E, McEwen FS, Earnest T, Friedrich N, Mörtl I, Liang H, Woodhouse E; TS2000 Study Team, Tye C, Bolton PF
Cortex 2022 Jan;146:50-65. Epub 2021 Nov 4 doi: 10.1016/j.cortex.2021.10.007. PMID: 34839218
Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group
JAMA Neurol 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. PMID: 33346789Free PMC Article
Sasongko TH, Ismail NF, Zabidi-Hussin Z
Cochrane Database Syst Rev 2016 Jul 13;7(7):CD011272. doi: 10.1002/14651858.CD011272.pub2. PMID: 27409709Free PMC Article
Curatolo P, Moavero R, Roberto D, Graziola F
Semin Pediatr Neurol 2015 Dec;22(4):259-73. Epub 2015 Oct 21 doi: 10.1016/j.spen.2015.10.002. PMID: 26706013

Diagnosis

Pei SP, Guan HL, Jin F
Medicine (Baltimore) 2023 Dec 15;102(50):e36623. doi: 10.1097/MD.0000000000036623. PMID: 38115306Free PMC Article
Curatolo P, Trivisano M, Specchio N
Semin Pediatr Neurol 2023 Oct;47:101086. Epub 2023 Sep 18 doi: 10.1016/j.spen.2023.101086. PMID: 37919037
Shephard E, McEwen FS, Earnest T, Friedrich N, Mörtl I, Liang H, Woodhouse E; TS2000 Study Team, Tye C, Bolton PF
Cortex 2022 Jan;146:50-65. Epub 2021 Nov 4 doi: 10.1016/j.cortex.2021.10.007. PMID: 34839218
Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group
JAMA Neurol 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. PMID: 33346789Free PMC Article
Curatolo P, Moavero R, Roberto D, Graziola F
Semin Pediatr Neurol 2015 Dec;22(4):259-73. Epub 2015 Oct 21 doi: 10.1016/j.spen.2015.10.002. PMID: 26706013

Therapy

Pei SP, Guan HL, Jin F
Medicine (Baltimore) 2023 Dec 15;102(50):e36623. doi: 10.1097/MD.0000000000036623. PMID: 38115306Free PMC Article
d'Orio P, Pelliccia V, Biondi D, Scarpa P, Gozzo F, Revay M, Cardinale F, Tassi L, Cossu M
Seizure 2022 Apr;97:8-14. Epub 2022 Feb 27 doi: 10.1016/j.seizure.2022.02.013. PMID: 35247673
D'Gama AM, Poduri A
Neurotherapeutics 2021 Jul;18(3):1548-1563. Epub 2021 Oct 4 doi: 10.1007/s13311-021-01122-6. PMID: 34608615Free PMC Article
Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group
JAMA Neurol 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. PMID: 33346789Free PMC Article
Sasongko TH, Ismail NF, Zabidi-Hussin Z
Cochrane Database Syst Rev 2016 Jul 13;7(7):CD011272. doi: 10.1002/14651858.CD011272.pub2. PMID: 27409709Free PMC Article

Prognosis

Curatolo P, Trivisano M, Specchio N
Semin Pediatr Neurol 2023 Oct;47:101086. Epub 2023 Sep 18 doi: 10.1016/j.spen.2023.101086. PMID: 37919037
d'Orio P, Pelliccia V, Biondi D, Scarpa P, Gozzo F, Revay M, Cardinale F, Tassi L, Cossu M
Seizure 2022 Apr;97:8-14. Epub 2022 Feb 27 doi: 10.1016/j.seizure.2022.02.013. PMID: 35247673
Huang Q, Zhou J, Wang X, Li T, Wang M, Wang J, Teng P, Qi X, Zhu M, Luan G, Zhai F
Seizure 2021 May;88:45-52. Epub 2021 Mar 25 doi: 10.1016/j.seizure.2021.03.022. PMID: 33812307
Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group
JAMA Neurol 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. PMID: 33346789Free PMC Article
Curatolo P, Moavero R, Roberto D, Graziola F
Semin Pediatr Neurol 2015 Dec;22(4):259-73. Epub 2015 Oct 21 doi: 10.1016/j.spen.2015.10.002. PMID: 26706013

Clinical prediction guides

Pei SP, Guan HL, Jin F
Medicine (Baltimore) 2023 Dec 15;102(50):e36623. doi: 10.1097/MD.0000000000036623. PMID: 38115306Free PMC Article
Curatolo P, Trivisano M, Specchio N
Semin Pediatr Neurol 2023 Oct;47:101086. Epub 2023 Sep 18 doi: 10.1016/j.spen.2023.101086. PMID: 37919037
d'Orio P, Pelliccia V, Biondi D, Scarpa P, Gozzo F, Revay M, Cardinale F, Tassi L, Cossu M
Seizure 2022 Apr;97:8-14. Epub 2022 Feb 27 doi: 10.1016/j.seizure.2022.02.013. PMID: 35247673
Huang Q, Zhou J, Wang X, Li T, Wang M, Wang J, Teng P, Qi X, Zhu M, Luan G, Zhai F
Seizure 2021 May;88:45-52. Epub 2021 Mar 25 doi: 10.1016/j.seizure.2021.03.022. PMID: 33812307
Krueger DA, Care MM, Holland K, Agricola K, Tudor C, Mangeshkar P, Wilson KA, Byars A, Sahmoud T, Franz DN
N Engl J Med 2010 Nov 4;363(19):1801-11. doi: 10.1056/NEJMoa1001671. PMID: 21047224

Recent systematic reviews

Sasongko TH, Ismail NF, Zabidi-Hussin Z
Cochrane Database Syst Rev 2016 Jul 13;7(7):CD011272. doi: 10.1002/14651858.CD011272.pub2. PMID: 27409709Free PMC Article

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