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Microlissencephaly

MedGen UID:
365439
Concept ID:
C1956147
Congenital Abnormality
Synonym: Micro-lissencephaly
SNOMED CT: Microlissencephaly (1003374009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
HPO: HP:0045028
Monarch Initiative: MONDO:0015204
Orphanet: ORPHA1083

Definition

Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrolissencephaly

Conditions with this feature

Osteodysplastic primordial dwarfism, type 1
MedGen UID:
347149
Concept ID:
C1859452
Congenital Abnormality
Microcephalic osteodysplastic primordial dwarfism type I (MOPD1) is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by Pierce and Morse, 2012).
Lissencephaly 6 with microcephaly
MedGen UID:
863962
Concept ID:
C4015525
Congenital Abnormality
Lissencephaly-6 (LIS6) is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
Microcephaly 17, primary, autosomal recessive
MedGen UID:
934690
Concept ID:
C4310723
Disease or Syndrome
Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).
Microcephaly 20, primary, autosomal recessive
MedGen UID:
1641618
Concept ID:
C4693572
Congenital Abnormality

Professional guidelines

PubMed

Hokken-Koelega ACS, van der Steen M, Boguszewski MCS, Cianfarani S, Dahlgren J, Horikawa R, Mericq V, Rapaport R, Alherbish A, Braslavsky D, Charmandari E, Chernausek SD, Cutfield WS, Dauber A, Deeb A, Goedegebuure WJ, Hofman PL, Isganatis E, Jorge AA, Kanaka-Gantenbein C, Kashimada K, Khadilkar V, Luo XP, Mathai S, Nakano Y, Yau M
Endocr Rev 2023 May 8;44(3):539-565. doi: 10.1210/endrev/bnad002. PMID: 36635911Free PMC Article
Fiesco-Roa MO, Giri N, McReynolds LJ, Best AF, Alter BP
Blood Rev 2019 Sep;37:100589. Epub 2019 Jul 16 doi: 10.1016/j.blre.2019.100589. PMID: 31351673Free PMC Article
Paquet C, Yudin MH; Society of Obstetricians and Gynaecologists of Canada
J Obstet Gynaecol Can 2013 Jan;35(1):78-81. doi: 10.1016/s1701-2163(15)31053-7. PMID: 23343802

Recent clinical studies

Etiology

Hagege R, Krajden Haratz K, Malinger G, Ben-Sira L, Leibovitz Z, Heron D, Burglen L, Birnbaum R, Valence S, Keren B, Blumkin L, Jouannic JM, Lerman-Sagie T, Garel C
Ultrasound Obstet Gynecol 2023 Jun;61(6):740-748. doi: 10.1002/uog.26140. PMID: 36484554
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB
Semin Cell Dev Biol 2023 Mar 15;137:87-95. Epub 2022 Jul 30 doi: 10.1016/j.semcdb.2022.07.009. PMID: 35915025
Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium, Beldjord C, Chelly J
Brain 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082. PMID: 24860126
Pavone L, Corsello G, Pavone P, Iannetti P
Front Biosci (Schol Ed) 2010 Jan 1;2(1):85-95. doi: 10.2741/s47. PMID: 20036930
Klinge L, Schaper J, Wieczorek D, Voit T
Neuropediatrics 2002 Dec;33(6):309-13. doi: 10.1055/s-2002-37086. PMID: 12571786

Diagnosis

Hagege R, Krajden Haratz K, Malinger G, Ben-Sira L, Leibovitz Z, Heron D, Burglen L, Birnbaum R, Valence S, Keren B, Blumkin L, Jouannic JM, Lerman-Sagie T, Garel C
Ultrasound Obstet Gynecol 2023 Jun;61(6):740-748. doi: 10.1002/uog.26140. PMID: 36484554
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB
Semin Cell Dev Biol 2023 Mar 15;137:87-95. Epub 2022 Jul 30 doi: 10.1016/j.semcdb.2022.07.009. PMID: 35915025
Ruaud L, Drunat S, Elmaleh-Bergès M, Ernault A, Guilmin Crepon S; MCPH Consortium, El Ghouzzi V, Auvin S, Verloes A, Passemard S
Dev Med Child Neurol 2022 Apr;64(4):509-517. Epub 2021 Sep 25 doi: 10.1111/dmcn.15060. PMID: 35726608
Abdel Razek AA, Castillo M
J Comput Assist Tomogr 2016 Jan-Feb;40(1):14-25. doi: 10.1097/RCT.0000000000000340. PMID: 26599961
Poirier K, Martinovic J, Laquerrière A, Cavallin M, Fallet-Bianco C, Desguerre I, Valence S, Grande-Goburghun J, Francannet C, Deleuze JF, Boland A, Chelly J, Bahi-Buisson N
Eur J Med Genet 2015 Aug;58(8):416-8. Epub 2015 Jul 16 doi: 10.1016/j.ejmg.2015.06.006. PMID: 26188271

Therapy

Gardner RJ, Savarirayan R, Dunne KB, McLellan JA, Coleman LT, Suthers GK
Clin Dysmorphol 2001 Jul;10(3):203-8. doi: 10.1097/00019605-200107000-00010. PMID: 11446415

Prognosis

Jauhari P, Farmania R, Chakrabarty B, Kumar A, Gulati S
Seizure 2020 Dec;83:175-180. Epub 2020 Oct 31 doi: 10.1016/j.seizure.2020.10.020. PMID: 33161247
Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium, Beldjord C, Chelly J
Brain 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082. PMID: 24860126
Poulton CJ, Schot R, Seufert K, Lequin MH, Accogli A, Annunzio GD, Villard L, Philip N, de Coo R, Catsman-Berrevoets C, Grasshoff U, Kattentidt-Mouravieva A, Calf H, de Vreugt-Gronloh E, van Unen L, Verheijen FW, Galjart N, Morris-Rosendahl DJ, Mancini GM
Am J Med Genet A 2014 Sep;164A(9):2161-71. Epub 2014 May 19 doi: 10.1002/ajmg.a.36611. PMID: 24842779
Klinge L, Schaper J, Wieczorek D, Voit T
Neuropediatrics 2002 Dec;33(6):309-13. doi: 10.1055/s-2002-37086. PMID: 12571786
Sztriha L, Al-Gazali L, Várady E, Nork M, Varughese M
Pediatr Neurol 1998 Apr;18(4):362-5. doi: 10.1016/s0887-8994(97)00213-0. PMID: 9588537

Clinical prediction guides

Tsai MH, Ke HC, Lin WC, Nian FS, Huang CW, Cheng HY, Hsu CS, Granata T, Chang CH, Castellotti B, Lin SY, Doniselli FM, Lu CJ, Franceschetti S, Ragona F, Hou PS, Canafoglia L, Tung CY, Lee MH, Wang WJ, Tsai JW
Acta Neuropathol 2024 Jan 9;147(1):13. doi: 10.1007/s00401-023-02665-y. PMID: 38194050Free PMC Article
Abdel-Salam GMH, Abdel-Hamid MS
Clin Genet 2023 Sep;104(3):356-364. Epub 2023 May 15 doi: 10.1111/cge.14357. PMID: 37190898
Hagege R, Krajden Haratz K, Malinger G, Ben-Sira L, Leibovitz Z, Heron D, Burglen L, Birnbaum R, Valence S, Keren B, Blumkin L, Jouannic JM, Lerman-Sagie T, Garel C
Ultrasound Obstet Gynecol 2023 Jun;61(6):740-748. doi: 10.1002/uog.26140. PMID: 36484554
Ruaud L, Drunat S, Elmaleh-Bergès M, Ernault A, Guilmin Crepon S; MCPH Consortium, El Ghouzzi V, Auvin S, Verloes A, Passemard S
Dev Med Child Neurol 2022 Apr;64(4):509-517. Epub 2021 Sep 25 doi: 10.1111/dmcn.15060. PMID: 35726608
Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD
Eur J Med Genet 2018 Dec;61(12):744-754. Epub 2018 Jul 17 doi: 10.1016/j.ejmg.2018.07.012. PMID: 30016746

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