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Complex cortical dysplasia with other brain malformations 2(CDCBM2)

MedGen UID:
815343
Concept ID:
C3809013
Disease or Syndrome
Synonyms: CDCBM2; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
 
Gene (location): KIF5C (2q23.1-23.2)
 
Monarch Initiative: MONDO:0014116
OMIM®: 615282

Definition

Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene. [from MONDO]

Clinical features

From HPO
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Disproportionately small hand.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
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.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Motor stereotypies
MedGen UID:
21318
Concept ID:
C0038271
Individual Behavior
Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
Self-injurious behavior
MedGen UID:
88371
Concept ID:
C0085271
Individual Behavior
Self-aggression.
Clonic seizure
MedGen UID:
66708
Concept ID:
C0234535
Disease or Syndrome
A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.
Polymicrogyria
MedGen UID:
78605
Concept ID:
C0266464
Congenital Abnormality
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
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.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Secondary microcephaly
MedGen UID:
608952
Concept ID:
C0431352
Finding
Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Arthrogryposis multiplex congenita
MedGen UID:
1830310
Concept ID:
C5779613
Disease or Syndrome
Multiple congenital contractures in different body areas.
Fetal akinesia deformation sequence 1
MedGen UID:
220903
Concept ID:
C1276035
Disease or Syndrome
Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).

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
Togi S, Ura H, Hatanaka H, Niida Y
Int J Mol Sci 2022 Sep 22;23(19) doi: 10.3390/ijms231911175. PMID: 36232477Free PMC Article
Ebrahimi-Fakhari D, Franz DN
Expert Opin Pharmacother 2020 Aug;21(11):1329-1336. Epub 2020 Apr 27 doi: 10.1080/14656566.2020.1751124. PMID: 32338549

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
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
Seltzer LE, Paciorkowski AR
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):140-55. Epub 2014 May 16 doi: 10.1002/ajmg.c.31400. PMID: 24839169
Smalley SL
Psychiatr Clin North Am 1991 Mar;14(1):125-39. PMID: 2047327

Diagnosis

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
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
Uysal SP, Şahin M
Turk J Med Sci 2020 Nov 3;50(SI-2):1665-1676. doi: 10.3906/sag-2002-133. PMID: 32222129Free 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
Seltzer LE, Paciorkowski AR
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):140-55. Epub 2014 May 16 doi: 10.1002/ajmg.c.31400. PMID: 24839169

Therapy

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
Zöllner JP, Grau J, Rosenow F, Sauter M, Knuf M, Kurlemann G, Mayer T, Hertzberg C, Bertsche A, Immisch I, Klein KM, Knake S, Marquard K, Meyer S, Noda AH, von Podewils F, Schäfer H, Thiels C, Willems LM, Zukunft B, Schubert-Bast S, Strzelczyk A
Orphanet J Rare Dis 2021 Jun 2;16(1):250. doi: 10.1186/s13023-021-01838-w. PMID: 34078440Free 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
Schwartz RA, Fernández G, Kotulska K, Jóźwiak S
J Am Acad Dermatol 2007 Aug;57(2):189-202. doi: 10.1016/j.jaad.2007.05.004. PMID: 17637444

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
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
Pondal-Sordo M, Diosy D, Téllez-Zenteno JF, Girvin JP, Wiebe S
Brain 2006 Dec;129(Pt 12):3307-14. Epub 2006 Nov 1 doi: 10.1093/brain/awl305. PMID: 17082200

Clinical prediction guides

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
Norambuena A, Sun X, Wallrabe H, Cao R, Sun N, Pardo E, Shivange N, Wang DB, Post LA, Ferris HA, Hu S, Periasamy A, Bloom GS
Neurobiol Dis 2022 Jul;169:105737. Epub 2022 Apr 20 doi: 10.1016/j.nbd.2022.105737. PMID: 35452786Free PMC Article
Khoo HM, von Ellenrieder N, Zazubovits N, Hall JA, Dubeau F, Gotman J
Ann Clin Transl Neurol 2019 Jun;6(6):1010-1023. Epub 2019 May 3 doi: 10.1002/acn3.769. PMID: 31211165Free PMC Article
Pondal-Sordo M, Diosy D, Téllez-Zenteno JF, Girvin JP, Wiebe S
Brain 2006 Dec;129(Pt 12):3307-14. Epub 2006 Nov 1 doi: 10.1093/brain/awl305. PMID: 17082200
Striano S, Nocerino C, Striano P, Boccella P, Meo R, Bilo L, Cirillo S
Neurol Sci 2000 Jun;21(3):151-5. doi: 10.1007/s100720070090. PMID: 11076003

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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