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Frontal polymicrogyria

MedGen UID:
335671
Concept ID:
C1847356
Finding
Synonym: Polymicrogyria, frontal
 
HPO: HP:0006821

Definition

A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFrontal polymicrogyria

Conditions with this feature

Joubert syndrome 3
MedGen UID:
332931
Concept ID:
C1837713
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Developmental and epileptic encephalopathy, 8
MedGen UID:
375581
Concept ID:
C1845102
Disease or Syndrome
Developmental and epileptic encephalopathy-8 (DEE8) is an X-linked disorder characterized by seizure onset before 2 years of age and severe developmental delay. Some patients have hyperekplexia (summary by Shimojima et al., 2011). For general phenotypic descriptions and discussions of genetic heterogeneity of developmental and epileptic encephalopathy and hyperekplexia, see DEE1 (308350) and HKPX1 (149400), respectively.
Bilateral frontoparietal polymicrogyria
MedGen UID:
376107
Concept ID:
C1847352
Disease or Syndrome
Complex cortical dysplasia with other brain malformations-14A (CDCBM14A) is an autosomal recessive neurologic disorder characterized by global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence. Additional features may include strabismus, nystagmus, exo- or esotropia, axial hypotonia, and spasticity. Brain imaging shows bilateral frontoparietal polymicrogyria, a frontal-predominant cobblestone malformation of the cortex, scalloping of the cortical/white matter junction, enlarged ventricles, and hypoplasia of the pons, brainstem, and cerebellum. The disorder can be classified as a malformation of cortical development (summary by Parrini et al., 2009; Luo et al., 2011; Zulfiqar et al., 2021). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).
Intellectual disability, autosomal dominant 13
MedGen UID:
482832
Concept ID:
C3281202
Disease or Syndrome
Complex cortical dysplasia with other brain malformations-13 (CDCBM13) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development. Brain imaging shows variable neuronal migration defects resulting in cortical malformations, including pachygyria. More variable features include early-onset seizures and dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).
Complex cortical dysplasia with other brain malformations 1
MedGen UID:
814727
Concept ID:
C3808397
Disease or Syndrome
Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved (summary by Poirier et al., 2010). Genetic Heterogeneity of Complex Cortical Dysplasia with Other Brain Malformations See also CDCBM2 (615282), caused by mutation in the KIF5C gene (604593) on chromosome 2q23; CDCBM3 (615411), caused by mutation in the KIF2A gene (602591) on chromosome 5q12; CDCBM4 (615412), caused by mutation in the TUBG1 gene (191135) on chromosome 17q21; CDCBM5 (615763), caused by mutation in the TUBB2A gene (615101) on chromosome 6p25; CDCBM6 (615771), caused by mutation in the TUBB gene (191130) on chromosome 6p21; CDCBM7 (610031), caused by mutation in the TUBB2B gene (612850) on chromosome 6p25; CDCBM9 (618174), caused by mutation in the CTNNA2 gene (114025) on chromosome 2p12; CDCBM10 (618677), caused by mutation in the APC2 gene (612034) on chromosome 19p13; CDCBM11 (620156), caused by mutation in the KIF26A gene (613231) on chromosome 14q32; CDCBM12 (620316), caused by mutation in the CAMSAP1 gene (613774) on chromosome 9q34; CDCBM13 (614563), caused by mutation in the DYNC1H1 gene (600112) on chromosome 14q32; CDCBM14A (606854) and CDCBM14B (615752), caused by mutation in the ADGRG1 gene (604110) on chromosome 16q21; and CDCBM15 (618737), caused by mutation in the TUBGCP2 gene (617817) on chromosome 10q26. The designation CDCBM8 was previously used to represent a phenotype caused by mutation in the TUBA8 gene (see 605742.0001) on chromosome 22q11; the patients with this phenotype were subsequently found to have a homozygous mutation in the SNAP29 gene (604202.0002), also on chromosome 22q11, that may have been responsible for the disorder. The same mutation in SNAP29 causes a similar disorder, CEDNIK syndrome (609528). See also lissencephaly (e.g., LIS1, 607432), which shows overlapping features and may result from mutation in tubulin genes.
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
MedGen UID:
1823982
Concept ID:
C5774209
Disease or Syndrome
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities (NEDSMBA) is an autosomal recessive disorder characterized by a core phenotype of moderate to profound developmental delay, progressive microcephaly, epilepsy, and periventricular calcifications (summary by Rosenhahn et al., 2022).

Professional guidelines

PubMed

Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA
Ann Neurol 2005 Nov;58(5):680-7. doi: 10.1002/ana.20616. PMID: 16240336

Recent clinical studies

Etiology

Graber D, Imagawa E, Miyake N, Matsumoto N, Miyatake S, Graber M, Isidor B
Brain Dev 2022 Feb;44(2):173-177. Epub 2021 Oct 19 doi: 10.1016/j.braindev.2021.09.009. PMID: 34674900
Teixeira KC, Montenegro MA, Cendes F, Guimarães CA, Guerreiro CA, Guerreiro MM
J Clin Neurophysiol 2007 Jun;24(3):244-51. doi: 10.1097/WNP.0b013e31803bb792. PMID: 17545827
de Vasconcelos Hage SR, Cendes F, Montenegro MA, Abramides DV, Guimarães CA, Guerreiro MM
Arq Neuropsiquiatr 2006 Jun;64(2A):173-80. Epub 2006 Jun 9 doi: 10.1590/s0004-282x2006000200001. PMID: 16791351
Ribacoba Montero R, Garcia Pravia C, Astudillo A, Salas Puig J
Seizure 2001 Jun;10(4):298-302. doi: 10.1053/seiz.2000.0496. PMID: 11466027
Barkovich AJ, Hevner R, Guerrini R
AJNR Am J Neuroradiol 1999 Nov-Dec;20(10):1814-21. PMID: 10588102Free PMC Article

Diagnosis

Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D
Am J Med Genet A 2004 Jul 30;128A(3):235-45. doi: 10.1002/ajmg.a.30060. PMID: 15216543
Sztriha L, Nork M
Eur J Paediatr Neurol 2002;6(4):229-32. doi: 10.1053/ejpn.2002.0599. PMID: 12374591
Ribacoba Montero R, Garcia Pravia C, Astudillo A, Salas Puig J
Seizure 2001 Jun;10(4):298-302. doi: 10.1053/seiz.2000.0496. PMID: 11466027
Barkovich AJ, Hevner R, Guerrini R
AJNR Am J Neuroradiol 1999 Nov-Dec;20(10):1814-21. PMID: 10588102Free PMC Article
Barkovich AJ
AJNR Am J Neuroradiol 1998 Sep;19(8):1389-96. PMID: 9763366Free PMC Article

Therapy

Barkovich AJ, Hevner R, Guerrini R
AJNR Am J Neuroradiol 1999 Nov-Dec;20(10):1814-21. PMID: 10588102Free PMC Article

Prognosis

Ribacoba Montero R, Garcia Pravia C, Astudillo A, Salas Puig J
Seizure 2002 Apr;11 Suppl A:298-302. PMID: 12185764
Ribacoba Montero R, Garcia Pravia C, Astudillo A, Salas Puig J
Seizure 2001 Jun;10(4):298-302. doi: 10.1053/seiz.2000.0496. PMID: 11466027

Clinical prediction guides

Graber D, Imagawa E, Miyake N, Matsumoto N, Miyatake S, Graber M, Isidor B
Brain Dev 2022 Feb;44(2):173-177. Epub 2021 Oct 19 doi: 10.1016/j.braindev.2021.09.009. PMID: 34674900
Shimojima K, Sugawara M, Shichiji M, Mukaida S, Takayama R, Imai K, Yamamoto T
J Hum Genet 2011 Aug;56(8):561-5. Epub 2011 Jun 2 doi: 10.1038/jhg.2011.58. PMID: 21633362
Tombini M, Marciani MG, Romigi A, Izzi F, Sperli F, Bozzao A, Floris R, De Simone R, Placidi F
J Neurol Sci 2003 Sep 15;213(1-2):83-6. doi: 10.1016/s0022-510x(03)00148-5. PMID: 12873759

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