{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:21:16Z","timestamp":1790014876156,"version":"4.0.1"},"reference-count":134,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,2,16]],"date-time":"2023-02-16T00:00:00Z","timestamp":1676505600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Koeln Fortune Program (Faculty of Medicine, University of Cologne)","award":["381\/2020"],"award-info":[{"award-number":["381\/2020"]}]},{"name":"Koeln Fortune Program (Faculty of Medicine, University of Cologne)","award":["Projects 38-RP"],"award-info":[{"award-number":["Projects 38-RP"]}]},{"name":"Koeln Fortune Program (Faculty of Medicine, University of Cologne)","award":["2635\/8029\/01"],"award-info":[{"award-number":["2635\/8029\/01"]}]},{"name":"Koeln Fortune Program (Faculty of Medicine, University of Cologne)","award":["2635\/8326\/01"],"award-info":[{"award-number":["2635\/8326\/01"]}]},{"name":"Center for Molecular Medicine Cologne (CMMC)","award":["381\/2020"],"award-info":[{"award-number":["381\/2020"]}]},{"name":"Center for Molecular Medicine Cologne (CMMC)","award":["Projects 38-RP"],"award-info":[{"award-number":["Projects 38-RP"]}]},{"name":"Center for Molecular Medicine Cologne (CMMC)","award":["2635\/8029\/01"],"award-info":[{"award-number":["2635\/8029\/01"]}]},{"name":"Center for Molecular Medicine Cologne (CMMC)","award":["2635\/8326\/01"],"award-info":[{"award-number":["2635\/8326\/01"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Congenital microcephaly (CM) exhibits broad clinical and genetic heterogeneity and is thus categorized into several subtypes. However, the recent bloom of disease\u2013gene discoveries has revealed more overlaps than differences in the underlying genetic architecture for these clinical sub-categories, complicating the differential diagnosis. Moreover, the mechanism of the paradigm shift from a brain-restricted to a multi-organ phenotype is only vaguely understood. This review article highlights the critical factors considered while defining CM subtypes. It also presents possible arguments on long-standing questions of the brain-specific nature of CM caused by a dysfunction of the ubiquitously expressed proteins. We argue that brain-specific splicing events and organ-restricted protein expression may contribute in part to disparate clinical manifestations. We also highlight the role of genetic modifiers and de novo variants in the multi-organ phenotype of CM and emphasize their consideration in molecular characterization. This review thus attempts to expand our understanding of the phenotypic and etiological variability in CM and invites the development of more comprehensive guidelines.<\/jats:p>","DOI":"10.3390\/cells12040642","type":"journal-article","created":{"date-parts":[[2023,2,17]],"date-time":"2023-02-17T02:27:24Z","timestamp":1676600844000},"page":"642","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated\/Non-Syndromic to Syndromic Microcephaly"],"prefix":"10.3390","volume":"12","author":[{"given":"Maria","family":"Asif","sequence":"first","affiliation":[{"name":"Cologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany"},{"name":"Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7168-8266","authenticated-orcid":false,"given":"Uzma","family":"Abdullah","sequence":"additional","affiliation":[{"name":"University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University, Rawalpindi, Rawalpindi 46300, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7228-428X","authenticated-orcid":false,"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany"},{"name":"Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sigrid","family":"Tinschert","sequence":"additional","affiliation":[{"name":"Zentrum Medizinische Genetik, Medizinische Universit\u00e4t, 6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1353-8809","authenticated-orcid":false,"given":"Muhammad Sajid","family":"Hussain","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany"},{"name":"Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,16]]},"reference":[{"key":"ref_1","first-page":"175","article-title":"Microcephaly: General considerations and aids to nosology","volume":"10","author":"Opitz","year":"1990","journal-title":"J. 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