H01376 | |
H number | H01376 |
Name | Acrofacial dysostosis |
Description | Acrofacial dysostosis (AFD) is a heterogeneous group of disorders combining mandibulofacial dysostosis (micrognathia and ear anomalies) with limb defects. The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genee-Wiedemann or Miller syndrome. Among several AFDs, causative mutations have recently been identified in an enzyme involved in pyrimidine biosynthesis in association with Miller syndrome, and in a component of the pre-mRNA spliceosomal complex with respect to Nager syndrome. |
Category | Congenital malformation |
Network | - |
Gene | (POADS) DHODH [HSA:1723] [KO:K00254] (AFD1) SF3B4 [HSA:10262] [KO:K12831] (WAD) EVC2 [HSA:132884] [KO:K19608] (WAD) EVC [HSA:2121] [KO:K19605] (AFDCIN) POLR1A [HSA:25885] [KO:K02999] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD25.2 ICD-10: Q75.4 MeSH: C537680 C538182 C538183 C538184 C538185 OMIM: 263750 154400 193530 616462 |
Reference | PMID:8266994 AUTHORS Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M TITLE Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. JOURNAL Am J Med Genet 47:660-78 (1993) DOI:10.1002/ajmg.1320470517 PMID:24123981 AUTHORS Trainor PA, Andrews BT TITLE Facial dysostoses: Etiology, pathogenesis and management. JOURNAL Am J Med Genet C Semin Med Genet 163:283-94 (2013) DOI:10.1002/ajmg.c.31375 PMID:17674260 AUTHORS Verrotti C, Benassi G, Piantelli G, Magnani C, Giordano G, Gramellini D TITLE Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review. JOURNAL J Matern Fetal Neonatal Med 20:487-90 (2007) DOI:10.1080/14767050701398447 PMID:23565775 AUTHORS Wieczorek D TITLE Human facial dysostoses. JOURNAL Clin Genet 83:499-510 (2013) DOI:10.1111/cge.12123 PMID:19915526 (DHODH) AUTHORS Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ TITLE Exome sequencing identifies the cause of a mendelian disorder. JOURNAL Nat Genet 42:30-5 (2010) DOI:10.1038/ng.499 PMID:22541558 (SF3B4) AUTHORS Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS TITLE Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. JOURNAL Am J Hum Genet 90:925-33 (2012) DOI:10.1016/j.ajhg.2012.04.004 PMID:16404586 (EVC2) AUTHORS Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S, Guo R, Bian Z TITLE A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. JOURNAL Hum Genet 119:199-205 (2006) DOI:10.1007/s00439-005-0129-2 PMID:10700184 (EVC) AUTHORS Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J TITLE Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. JOURNAL Nat Genet 24:283-6 (2000) DOI:10.1038/73508 PMID:25913037 (POLR1A) AUTHORS Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, Konig R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM TITLE Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. JOURNAL Am J Hum Genet 96:765-74 (2015) DOI:10.1016/j.ajhg.2015.03.011 |