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Lissencephaly type 3

MedGen UID:: 369910
•Concept ID:: C1969029
•: Disease or Syndrome

Synonym:	Lissencephaly 3
SNOMED CT:	Type 3 lissencephaly (1003444000)

Monarch Initiative:	MONDO:0015148
Orphanet:	ORPHA102011

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLissencephaly type 3

Abnormal brain morphology
- Abnormal forebrain morphology
  - Abnormal cerebral morphology
    - Abnormal cerebral cortex morphology
      - Abnormal cortical gyration
        Lissencephaly
        Lissencephaly type 3
        Lissencephaly type 3-familial fetal akinesia sequence syndrome
        Lissencephaly type 3-metacarpal bone dysplasia syndrome
        Neu-Laxova syndrome
        Neu-Laxova syndrome 1
        Neu-Laxova syndrome 2
        Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency

Follow this link to review classifications for Lissencephaly type 3 in Orphanet.

Professional guidelines

PubMed

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.

Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H
Orphanet J Rare Dis 2019 Jul 16;14(1):179. doi: 10.1186/s13023-019-1119-0. PMID: 31311558 Free PMC Article

Respiratory management of patients with Fukuyama congenital muscular dystrophy.

Sato T, Murakami T, Ishiguro K, Shichiji M, Saito K, Osawa M, Nagata S, Ishigaki K
Brain Dev 2016 Mar;38(3):324-30. Epub 2015 Sep 9 doi: 10.1016/j.braindev.2015.08.010. PMID: 26363734

Classification of hydrocephalus and outcome of treatment.

Mori K, Shimada J, Kurisaka M, Sato K, Watanabe K
Brain Dev 1995 Sep-Oct;17(5):338-48. doi: 10.1016/0387-7604(95)00070-r. PMID: 8579221

See all (5)

Recent clinical studies

Etiology

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.

Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F
Prenat Diagn 2024 Apr;44(4):422-431. Epub 2023 Dec 6 doi: 10.1002/pd.6466. PMID: 38054560 Free PMC Article

Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.

Kolbjer S, Martin DA, Pettersson M, Dahlin M, Anderlid BM
Eur J Paediatr Neurol 2021 Jan;30:71-81. Epub 2021 Jan 8 doi: 10.1016/j.ejpn.2020.12.011. PMID: 33453472

Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.

Waich S, Janecke AR, Parson W, Greber-Platzer S, Müller T, Huber LA, Valovka T, Vodopiutz J
Clin Genet 2020 Sep;98(3):282-287. Epub 2020 Jul 7 doi: 10.1111/cge.13797. PMID: 32557621 Free PMC Article

Ocular findings in lissencephaly.

Nabi NU, Mezer E, Blaser SI, Levin AA, Buncic JR
J AAPOS 2003 Jun;7(3):178-84. doi: 10.1016/s1091-8531(02)42005-8. PMID: 12825057

Neuropathological aspects of infantile spasms.

Jellinger K
Brain Dev 1987;9(4):349-57. doi: 10.1016/s0387-7604(87)80106-7. PMID: 3324792

See all (41)

Diagnosis

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.

Missed diagnosis of lissencephaly after prenatal diagnosis: A case report.

Liu M, Liu X, Wu J, Sha J, Zhai J, Zhang B
Medicine (Baltimore) 2023 Feb 17;102(7):e33014. doi: 10.1097/MD.0000000000033014. PMID: 36800618 Free PMC Article

Seizures and EEG characteristics in a cohort of pediatric patients with dystroglycanopathies.

Yang H, Song D, Liu Y, Chen X, Zhu Y, Wei C, Fu X, Liu X, Yang Z, Xiong H
Seizure 2022 Oct;101:39-47. Epub 2022 Jul 13 doi: 10.1016/j.seizure.2022.07.008. PMID: 35863218

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.

Friocourt G, Marcorelles P, Saugier-Veber P, Quille ML, Marret S, Laquerrière A
Acta Neuropathol 2011 Feb;121(2):149-70. Epub 2010 Nov 3 doi: 10.1007/s00401-010-0768-9. PMID: 21046408 Free PMC Article

Lissencephaly type I.

Leventer R
Handb Clin Neurol 2008;87:205-18. doi: 10.1016/S0072-9752(07)87013-8. PMID: 18809027

See all (59)

Therapy

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.

Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.

Kolbjer S, Martin DA, Pettersson M, Dahlin M, Anderlid BM
Eur J Paediatr Neurol 2021 Jan;30:71-81. Epub 2021 Jan 8 doi: 10.1016/j.ejpn.2020.12.011. PMID: 33453472

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.

Murphy LB, Schreiber-Katz O, Rafferty K, Robertson A, Topf A, Willis TA, Heidemann M, Thiele S, Bindoff L, Laurent JP, Lochmüller H, Mathews K, Mitchell C, Stevenson JH, Vissing J, Woods L, Walter MC, Straub V
Ann Clin Transl Neurol 2020 May;7(5):757-766. Epub 2020 Apr 28 doi: 10.1002/acn3.51042. PMID: 32342672 Free PMC Article

Hot water epilepsy with pachygyria.

Hizem Y, Gargouri A, Ben Djebara M, Kacem I, Abdelkefi I, Jemli F, Gouider R
Neurol Sci 2012 Jun;33(3):631-3. Epub 2011 Sep 20 doi: 10.1007/s10072-011-0780-4. PMID: 21932090

Diagnostic features and clinical signs of 21 patients with lissencephaly type 1.

de Rijk-van Andel JF, Arts WF, Barth PG, Loonen MC
Dev Med Child Neurol 1990 Aug;32(8):707-17. doi: 10.1111/j.1469-8749.1990.tb08431.x. PMID: 2210085

See all (11)

Prognosis

Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.

Kolbjer S, Martin DA, Pettersson M, Dahlin M, Anderlid BM
Eur J Paediatr Neurol 2021 Jan;30:71-81. Epub 2021 Jan 8 doi: 10.1016/j.ejpn.2020.12.011. PMID: 33453472

Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases.

Lee JS, Lee KB, Song H, Sun C, Kim MJ, Cho SI, Lee YK, Park SS, Seong MW
Eur J Hum Genet 2021 Mar;29(3):463-470. Epub 2020 Nov 24 doi: 10.1038/s41431-020-00759-9. PMID: 33235377 Free PMC Article

Saillour Y, Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A, Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D, Roubertie A, Pitelet G, Moutard ML, Pinard JM, Cances C, Kaminska A, Chelly J, Beldjord C, Bahi-Buisson N
Arch Neurol 2009 Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149. PMID: 19667223

Lissencephaly and the molecular basis of neuronal migration.

Kato M, Dobyns WB
Hum Mol Genet 2003 Apr 1;12 Spec No 1:R89-96. doi: 10.1093/hmg/ddg086. PMID: 12668601

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.

Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH
Hum Mol Genet 2000 Dec 12;9(20):3019-28. doi: 10.1093/hmg/9.20.3019. PMID: 11115846

See all (18)

Clinical prediction guides

Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.

Kolbjer S, Martin DA, Pettersson M, Dahlin M, Anderlid BM
Eur J Paediatr Neurol 2021 Jan;30:71-81. Epub 2021 Jan 8 doi: 10.1016/j.ejpn.2020.12.011. PMID: 33453472

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.

Ocular findings in lissencephaly.

Nabi NU, Mezer E, Blaser SI, Levin AA, Buncic JR
J AAPOS 2003 Jun;7(3):178-84. doi: 10.1016/s1091-8531(02)42005-8. PMID: 12825057

Lissencephaly and the molecular basis of neuronal migration.

Kato M, Dobyns WB
Hum Mol Genet 2003 Apr 1;12 Spec No 1:R89-96. doi: 10.1093/hmg/ddg086. PMID: 12668601

Neuropathological aspects of infantile spasms.

Jellinger K
Brain Dev 1987;9(4):349-57. doi: 10.1016/s0387-7604(87)80106-7. PMID: 3324792

See all (32)