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Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">EFTUD2<\/jats:styled-content><\/jats:italic>, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion\u2010Almeida type (<jats:styled-content style=\"fixed-case\">MFDGA<\/jats:styled-content>), characterized by mandibulofacial dysostosis, microcephaly, external ear malformations and intellectual disability. Mutations in several other genes involved in spliceosomal function or linked aspects of <jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> processing have also recently been identified in human disorders with specific craniofacial malformations: <jats:italic><jats:styled-content style=\"fixed-case\">SF3B4<\/jats:styled-content><\/jats:italic> in Nager syndrome, an acrofacial dysostosis (AFD); <jats:italic><jats:styled-content style=\"fixed-case\">SNRPB<\/jats:styled-content><\/jats:italic> in cerebrocostomandibular syndrome, characterized by Robin sequence and rib defects; <jats:italic><jats:styled-content style=\"fixed-case\">EIF4A3<\/jats:styled-content><\/jats:italic> in the AFD Richieri\u2010Costa\u2013Pereira syndrome, characterized by Robin sequence, median mandibular cleft and limb defects; and <jats:italic><jats:styled-content style=\"fixed-case\">TXNL4A<\/jats:styled-content><\/jats:italic> in Burn\u2010<jats:styled-content style=\"fixed-case\">McKeown<\/jats:styled-content> syndrome, involving specific craniofacial dysmorphisms. Here, we review phenotypic and molecular aspects of these syndromes. Given the apparent sensitivity of craniofacial development to defects in <jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> processing, it is possible that mutations in other proteins involved in spliceosomal function will emerge in the future as causative for related human disorders.<\/jats:p>","DOI":"10.1111\/cge.12596","type":"journal-article","created":{"date-parts":[[2015,4,11]],"date-time":"2015-04-11T07:05:43Z","timestamp":1428735943000},"page":"405-415","source":"Crossref","is-referenced-by-count":103,"title":["A review of craniofacial disorders caused by spliceosomal defects"],"prefix":"10.1111","volume":"88","author":[{"given":"D.","family":"Lehalle","sequence":"first","affiliation":[{"name":"Department of Genetics, APHP H\u00f4pital Necker\u2010Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Wieczorek","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik 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