Genetics of craniofacial malformations

  • Ariane Schmetz
    Affiliations
    Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Germany
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  • Jeanne Amiel
    Affiliations
    Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, AP-HP, Paris, France
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  • Dagmar Wieczorek
    Correspondence
    Corresponding author. Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Universitätsstraße 1, 40225, Düsseldorf, Germany.
    Affiliations
    Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Germany
    Search for articles by this author
Published:September 16, 2021DOI:https://doi.org/10.1016/j.siny.2021.101290

      Abstract

      The field of craniofacial malformations is comprehensive and does not allow to discuss all craniofacial malformations which have been described as single entities. Many of the syndromes with craniofacial malformations are ultrarare. In this review we have chosen craniofacial malformation syndromes which are of relevance for the pediatrician, especially neonatologist: different types of craniosynostoses, oculo-auriculo-vertebral spectrum, Pierre Robin sequence and Treacher Collins syndrome. These syndromes will be described in detail. Diagnostic and therapeutic options will be discussed.

      Keywords

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      References

        • EUROCAT
        (the European surveillance of congenital anomalies) prevalence charts and tables | EU RD platform.
        (last update 28/05/2021)
        • Dixon M.J.
        • Marazita M.L.
        • Beaty T.H.
        • Murray J.C.
        Cleft lip and palate: understanding genetic and environmental influences.
        Nat Rev Genet. 2011; 12: 167-178https://doi.org/10.1038/nrg2933
        • Leslie E.J.
        • Marazita M.L.
        Genetics of cleft lip and cleft palate.
        Am J Med Genet Part C Semin Med Genet. 2013; 163: 246-258https://doi.org/10.1002/ajmg.c.31381
        • EUROCAT
        (the European surveillance of congenital anomalies) prevalence charts and tables | EU RD platform.
        (last update 28/05/2021)
        • Boulet S.L.
        • Rasmussen S.A.
        • Honein M.A.
        A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003.
        Am J Med Genet. 2008; 146: 984-991https://doi.org/10.1002/ajmg.a.32208
        • Cornelissen M.
        • Ottelander B den
        • Rizopoulos D.
        • van der Hulst R.
        • Mink van der Molen A.
        • van der Horst C.
        • et al.
        Increase of prevalence of craniosynostosis.
        J Cranio-Maxillofacial Surg. 2016; 44: 1273-1279https://doi.org/10.1016/j.jcms.2016.07.007
        • Persing J.A.
        MOC-PS(SM) CME article: management considerations in the treatment of craniosynostosis.
        Plast Reconstr Surg. 2008; 121: 1-11https://doi.org/10.1097/01.prs.0000305929.40363.bf
        • Kolar J.C.
        An epidemiological study of nonsyndromal craniosynostoses.
        J Craniofac Surg. 2011; 22: 47-49https://doi.org/10.1097/SCS.0b013e3181f6c2fb
        • Linz C.
        • Kunz F.
        • Böhm H.
        • Schweitzer T.
        Positional skull deformities-etiology, prevention, diagnosis, and treatment.
        Dtsch Arztebl Int. 2017; 114: 535-542https://doi.org/10.3238/arztebl.2017.0535
        • Wilkie A.O.M.
        • Byren J.C.
        • Hurst J.A.
        • Jayamohan J.
        • Johnson D.
        • Knight S.J.L.
        • et al.
        Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
        Pediatrics. 2010; 126https://doi.org/10.1542/peds.2009-3491
        • Online Mendelian Inheritance in Man
        OMIM®. Johns Hopkins University, Baltimore, MD. OMIM Entry Search - craniosynostosis World Wide Web.
        • Flöttmann R.
        • Knaus A.
        • Zemojtel T.
        • Robinson P.N.
        • Mundlos S.
        • Horn D.
        • et al.
        FGFR2 mutation in a patient without typical features of Pfeiffer syndrome - the emerging role of combined NGS and phenotype based strategies.
        Eur J Med Genet. 2015; 58: 376-380https://doi.org/10.1016/j.ejmg.2015.05.007
        • Kruszka P.
        • Addissie Y.A.
        • Yarnell C.M.P.
        • Hadley D.W.
        • Guillen Sacoto M.J.
        • Platte P.
        • et al.
        Muenke syndrome: an international multicenter natural history study.
        Am J Med Genet. 2016; 170: 918-929https://doi.org/10.1002/ajmg.a.37528
        • Gorlin R.J.
        • Jue K.L.
        • Jacobson U.
        • Goldschmidt E.
        Oculoauriculovertebral dysplasia.
        J Pediatr. 1963; 63: 991-999https://doi.org/10.1016/s0022-3476(63)80233-4
        • Grabb W.C.
        The first and second branchial arch syndrome.
        Plast Reconstr Surg. 1965; 36: 485-508https://doi.org/10.1097/00006534-196511000-00001
        • Morrison P.J.
        • Mulholland H.C.
        • Craig B.G.
        • Nevin N.C.
        Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
        Am J Med Genet. 1992; 44: 425-428https://doi.org/10.1002/ajmg.1320440407
        • Barisic I.
        • Odak L.
        • Loane M.
        • Garne E.
        • Wellesley D.
        • Calzolari E.
        • et al.
        Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.
        Eur J Hum Genet. 2014; 22: 1026-1033https://doi.org/10.1038/ejhg.2013.287
        • Beleza-Meireles A.
        • Hart R.
        • Clayton-Smith J.
        • Oliveira R.
        • Reis C.F.
        • Venâncio M.
        • et al.
        Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.
        Eur J Med Genet. 2015; 58: 455-465https://doi.org/10.1016/j.ejmg.2015.07.003
        • Tasse C.
        • Böhringer S.
        • Fischer S.
        • Lüdecke H.J.
        • Albrecht B.
        • Horn D.
        • et al.
        Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.
        Eur J Med Genet. 2005; 48: 397-411https://doi.org/10.1016/j.ejmg.2005.04.015
        • Glaeser A.B.
        • Diniz B.L.
        • Deconte D.
        • Santos A.S.
        • Rosa R.F.M.
        • Zen P.R.G.
        Microarray-based comparative genomic hybridization, multiplex ligation-dependent probe amplification, and high-resolution karyotype for differential diagnosis oculoauriculovertebral spectrum: a systematic review.
        J Pediatr Genet. 2020; 9: 149-157https://doi.org/10.1055/s-0040-1712118
        • Lopez E.
        • Berenguer M.
        • Tingaud-Sequeira A.
        • Marlin S.
        • Toutain A.
        • Denoyelle F.
        • et al.
        Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.
        J Med Genet. 2016; 53: 752-760https://doi.org/10.1136/jmedgenet-2016-103774
        • Rengasamy Venugopalan S.
        • Farrow E.
        • Sanchez-Lara P.A.
        • Yen S.
        • Lypka M.
        • Jiang S.
        • et al.
        A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient.
        Orthod Craniofac Res. 2019; 22: 163-167https://doi.org/10.1111/ocr.12259
        • Tingaud-Sequeira A.
        • Trimouille A.
        • Marlin S.
        • Lopez E.
        • Berenguer M.
        • Gherbi S.
        • et al.
        Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.
        Mol Genet Genomic Med. 2020; 8: e1375https://doi.org/10.1002/mgg3.1375
        • Tingaud-Sequeira A.
        • Trimouille A.
        • Salaria M.
        • Stapleton R.
        • Claverol S.
        • Plaisant C.
        • et al.
        A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.
        Hum Genet. 2021; 140: 933-944https://doi.org/10.1007/s00439-021-02255-6
        • Trimouille A.
        • Tingaud-Sequeira A.
        • Lacombe D.
        • Duelund Hjortshøj T.
        • Kreiborg S.
        • Buciek Hove H.
        • et al.
        Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.
        Clin Genet. 2020; 98: 384-389https://doi.org/10.1111/cge.13811
        • Wieczorek D.
        • Ludwig M.
        • Boehringer S.
        • Jongbloet P.H.
        • Gillessen-Kaesbach G.
        • Horsthemke B.
        Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome.
        Hum Genet. 2007; 121: 369-376https://doi.org/10.1007/s00439-007-0336-0
        • Fischer S.
        • Lüdecke H.J.
        • Wieczorek D.
        • Böhringer S.
        • Gillessen-Kaesbach G.
        • Horsthemke B.
        Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum.
        Hum Mol Genet. 2006; 15: 581-587https://doi.org/10.1093/hmg/ddi474
        • Lines M.A.
        • Huang L.
        • Schwartzentruber J.
        • Douglas S.L.
        • Lynch D.C.
        • Beaulieu C.
        • et al.
        Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
        Am J Hum Genet. 2012; 90: 369-377https://doi.org/10.1016/j.ajhg.2011.12.023
        • Bush P.G.
        • Williams A.J.
        Incidence of the Robin anomalad (Pierre Robin syndrome).
        Br J Plast Surg. 1983; 36: 434-437https://doi.org/10.1016/0007-1226(83)90123-6
        • Morice A.
        • Soupre V.
        • Mitanchez D.
        • Renault F.
        • Fauroux B.
        • Marlin S.
        • et al.
        Severity of retrognathia and glossoptosis does not predict respiratory and feeding disorders in Pierre Robin sequence.
        Front Pediatr. 2018; 6: 1-7https://doi.org/10.3389/fped.2018.00351
        • Holder-Espinasse M.
        • Abadie V.
        • Cormier-Daire V.
        • Beyler C.
        • Manach Y.
        • Munnich A.
        • et al.
        Pierre Robin sequence: a series of 117 consecutive cases.
        J Pediatr. 2001; 139: 588-590https://doi.org/10.1067/mpd.2001.117784
        • Logjes R.J.H.
        • Breugem C.C.
        • Van Haaften G.
        • Paes E.C.
        • Sperber G.H.
        • van den Boogaard M.J.H.
        • et al.
        The ontogeny of Robin sequence.
        Am J Med Genet. 2018; 176: 1349-1368https://doi.org/10.1002/ajmg.a.38718
        • Gordon C.T.
        • Chopra M.
        • Oufadem M.
        • Alibeu O.
        • Bras M.
        • Boddaert N.
        • et al.
        MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
        Am J Med Genet. 2018; 176: 181-186https://doi.org/10.1002/ajmg.a.38536
        • Benko S.
        • Fantes J.A.
        • Amiel J.
        • Kleinjan D.J.
        • Thomas S.
        • Ramsay J.
        • et al.
        Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
        Nat Genet. 2009; 41: 359-364https://doi.org/10.1038/ng.329
        • Di Pasquo E.
        • Amiel J.
        • Roth P.
        • Malan V.
        • Lind K.
        • Chalouhi C.
        • et al.
        Efficiency of prenatal diagnosis in Pierre Robin sequence.
        Prenat Diagn. 2017; 37: 1169-1175https://doi.org/10.1002/pd.5162
        • Wieczorek D.
        Human facial dysostoses.
        Clin Genet. 2013; 83: 499-510https://doi.org/10.1111/cge.12123
        • Dixon J.
        • Edwards S.J.
        • Gladwin A.J.
        • Dixon M.J.
        • Loftus S.K.
        • et al.
        • The Treacher Collins Syndrome Collaborative Group
        Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome.
        Nat Genet. 1996; 12: 130-136https://doi.org/10.1038/ng0296-130
        • Dauwerse J.G.
        • Dixon J.
        • Seland S.
        • Ruivenkamp C.A.L.
        • Van Haeringen A.
        • Hoefsloot L.H.
        • et al.
        Mutations in genes encoding subunits of RNA polymerases i and III cause Treacher Collins syndrome.
        Nat Genet. 2011; 43: 20-22https://doi.org/10.1038/ng.724
        • Sanchez E.
        • Laplace-Builhé B.
        • Mau-Them F.T.
        • Richard E.
        • Goldenberg A.
        • Toler T.L.
        • et al.
        POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
        Genet Med. 2020; 22: 547-556https://doi.org/10.1038/s41436-019-0669-9