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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center; van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium; Bulman DE, Boycott KM, Lines MA. Huang L, et al. Hum Mutat. 2016 Feb;37(2):148-54. doi: 10.1002/humu.22924. Epub 2015 Nov 19. Hum Mutat. 2016. PMID: 26507355 Free PMC article. Review.
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia. ...
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, …
Recurrent mandibulofacial dysostosis, Guion-Almeida type in consecutive pregnancies due to maternal mosaicism of a novel EFTUD2 variant: a case report and review of the literature.
Wang B, Hua C, Liu Q, Cai D. Wang B, et al. J Med Case Rep. 2026 Jan 12;20(1):71. doi: 10.1186/s13256-025-05741-x. J Med Case Rep. 2026. PMID: 41527140 Free PMC article. Review.
BACKGROUND: Mandibulofacial dysostosis, Guion-Almeida type is an autosomal dominant disorder characterized by craniofacial malformations and intellectual disability. Pathogenic EFTUD2 variants represent the primary genetic etiology of Mandibu …
BACKGROUND: Mandibulofacial dysostosis, Guion-Almeida type is an autosomal dominant disorder characterize …
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.
Thomas HB, Wood KA, Buczek WA, Gordon CT, Pingault V, Attié-Bitach T, Hentges KE, Varghese VC, Amiel J, Newman WG, O'Keefe RT. Thomas HB, et al. Hum Mutat. 2020 Aug;41(8):1372-1382. doi: 10.1002/humu.24027. Epub 2020 May 3. Hum Mutat. 2020. PMID: 32333448
Pathogenic variants in the core spliceosome U5 small nuclear ribonucleoprotein gene EFTUD2/SNU114 cause the craniofacial disorder mandibulofacial dysostosis Guion-Almeida type (MFDGA). MFDGA-associated variants in EFTUD2 comprise large deletions …
Pathogenic variants in the core spliceosome U5 small nuclear ribonucleoprotein gene EFTUD2/SNU114 cause the craniofacial disorder mandibu …
A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.
Ulhaq ZS, Soraya GV, Istifiani LA, Pamungkas SA, Arisanti D, Dini B, Astari LF, Hasan YTN, Ayudianti P, Kusuma MAS, Shodry S, Herawangsa S, Nurputra DK, Idaiani S, Tse WKF. Ulhaq ZS, et al. Cleft Palate Craniofac J. 2024 Apr;61(4):688-696. doi: 10.1177/10556656221136177. Epub 2022 Nov 1. Cleft Palate Craniofac J. 2024. PMID: 36317361
OBJECTIVE: Genetic variants in EFTUD2 were proven to influence variable phenotypic expressivity in mandibulofacial dysostosis Guion-Almeida type (MFDGA) or mandibulofacial dysostosis with microcephaly (MFDM). ...
OBJECTIVE: Genetic variants in EFTUD2 were proven to influence variable phenotypic expressivity in mandibulofacial dysostosis …
Prenatal features of mandibulofacial dysostosis Guion-Almeida Type.
Dragoi V, Nedelea F, Gica N, Botezatu R, Peltecu G, Panaitescu AM. Dragoi V, et al. J Med Life. 2021 Sep-Oct;14(5):722-725. doi: 10.25122/jml-2020-0082. J Med Life. 2021. PMID: 35027977 Free PMC article.
Facial dysostoses are clinically and genetically heterogeneous conditions characterized by congenital craniofacial anomalies which result from abnormal development of the first two pharyngeal arches and their derivatives during embryogenesis. Mandibulofacial dysostosis …
Facial dysostoses are clinically and genetically heterogeneous conditions characterized by congenital craniofacial anomalies which result fr …
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.
Yu KPT, Luk HM, Gordon CT, Fung G, Oufadem M, Garcia-Barcelo MM, Amiel J, Chung BHY, Lo IFM, Tiong YT. Yu KPT, et al. Clin Dysmorphol. 2018 Apr;27(2):31-35. doi: 10.1097/MCD.0000000000000214. Clin Dysmorphol. 2018. PMID: 29381487
Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital craniofacial anomalies that are caused by abnormal development of the first and second pharyngeal arches. ...
Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital …
Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.
Smigiel R, Bezniakow N, Jakubiak A, Błoch M, Patkowski D, Obersztyn E, Sasiadek MM. Smigiel R, et al. J Appl Genet. 2015 May;56(2):199-204. doi: 10.1007/s13353-014-0255-4. Epub 2014 Nov 12. J Appl Genet. 2015. PMID: 25387991
Our observations confirm the clinical heterogeneity of mandibulofacial dysostosis type Guion-Almeida and its connection with major congenital defects such as esophageal atresia and choanal atresia....
Our observations confirm the clinical heterogeneity of mandibulofacial dysostosis type Guion-Almeida and …
First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type.
Quinzi V, De Luca C, Giovannetti F, Splendiani A, Cocciadiferro D, Capolino R, Brancati F, Marzo G. Quinzi V, et al. Eur J Paediatr Dent. 2023 Dec 1;24(4):334-336. doi: 10.23804/ejpd.2023.24.04.03. Eur J Paediatr Dent. 2023. PMID: 38015115 Free article.
Mandibulofacial dysostosis Guion-Almeida Type (MFDGA; OMIM#610536) is a rare autosomal dominant genetic disorder caused by heterozygous pathogenic variants in the EFTUD2 gene. ...
Mandibulofacial dysostosis Guion-Almeida Type (MFDGA; OMIM#610536) is a rare autosomal dominant genetic d …
A review of craniofacial disorders caused by spliceosomal defects.
Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon CT. Lehalle D, et al. Clin Genet. 2015 Nov;88(5):405-15. doi: 10.1111/cge.12596. Epub 2015 May 1. Clin Genet. 2015. PMID: 25865758 Review.
Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion-Almeida type (MFDGA), characterized by mandibulofacial dysostosis, microcephaly, external ear mal …
Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial …
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.
Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN. Abell K, et al. Am J Med Genet A. 2021 Feb;185(2):413-423. doi: 10.1002/ajmg.a.61977. Epub 2020 Nov 27. Am J Med Genet A. 2021. PMID: 33247512 Free PMC article.
Mandibulofacial dysostosis with microcephaly (MFDM) is due to haploinsufficiency of spliceosomal GTPase EFTUD2. ...
Mandibulofacial dysostosis with microcephaly (MFDM) is due to haploinsufficiency of spliceosomal GTPase EFTUD2. …
43 results