| H01160 | |
| H number | H01160 |
| Name | Schizencephaly |
| Description | Schizencephaly is a clinically and etiologically heterogeneous cerebral malformation presenting as unilateral or bilateral hemispheric cleft with direct connection between the inner and outer liquor spaces. Gray matter-lined clefts in the cerebral cortex and a range of neurological presentations are characteristic. Mutations in SIX3, SHH, and EMX2 have been reported. |
| Category | Congenital malformation |
| Network | - |
| Gene | SIX3 [HSA:6496] [KO:K19473] SHH [HSA:6469] [KO:K11988] EMX2 [HSA:2018] [KO:K09317] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Schizencephaly may be considered as part of the wide phenotypic spectrum of the distinct developmental anomaly holoprosencephaly [DS:H00267]. |
| Other DBs | ICD-11: LA05.61 ICD-10: Q04.6 MeSH: D054220 OMIM: 269160 |
| Reference | PMID:20157829 AUTHORS Hehr U, Pineda-Alvarez DE, Uyanik G, Hu P, Zhou N, Hehr A, Schell-Apacik C, Altus C, Daumer-Haas C, Meiner A, Steuernagel P, Roessler E, Winkler J, Muenke M TITLE Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. JOURNAL Hum Genet 127:555-61 (2010) DOI:10.1007/s00439-010-0797-4 PMID:15888615 AUTHORS Oh KY, Kennedy AM, Frias AE Jr, Byrne JL TITLE Fetal schizencephaly: pre- and postnatal imaging with a review of the clinical manifestations. JOURNAL Radiographics 25:647-57 (2005) DOI:10.1148/rg.253045103 PMID:8528262 AUTHORS Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E TITLE Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. JOURNAL Nat Genet 12:94-6 (1996) DOI:10.1038/ng0196-94 |