 Craniofacial Abnormalities
"Craniofacial Abnormalities" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
| Descriptor ID |
D019465
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| MeSH Number(s) |
C05.660.207 C16.131.621.207
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Craniofacial Abnormalities".
Below are MeSH descriptors whose meaning is more specific than "Craniofacial Abnormalities".
This graph shows the total number of publications written about "Craniofacial Abnormalities" by people in this website by year, and whether "Craniofacial Abnormalities" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 0 | 2 | 2 | | 1999 | 2 | 0 | 2 | | 2003 | 0 | 2 | 2 | | 2004 | 0 | 1 | 1 | | 2007 | 1 | 1 | 2 | | 2008 | 0 | 1 | 1 | | 2009 | 4 | 0 | 4 | | 2011 | 2 | 0 | 2 | | 2012 | 2 | 0 | 2 | | 2013 | 1 | 0 | 1 | | 2014 | 0 | 1 | 1 | | 2015 | 2 | 1 | 3 | | 2016 | 2 | 1 | 3 | | 2017 | 1 | 3 | 4 | | 2018 | 3 | 1 | 4 | | 2019 | 3 | 0 | 3 | | 2020 | 3 | 0 | 3 | | 2021 | 2 | 2 | 4 | | 2024 | 2 | 1 | 3 | | 2025 | 2 | 0 | 2 |
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Below are the most recent publications written about "Craniofacial Abnormalities" by people in Profiles.
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Trainor PA, Cox TC, Clouthier DE, Fantauzzo KA, Harris MP, Jeong J, Stottmann RW, Merrill AE. The Society for Craniofacial Genetics and Developmental Biology 47th Annual Meeting. Am J Med Genet A. 2025 Jul; 197(7):e64059.
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Guillouet C, Agostini V, Baujat G, Cocciadiferro D, Pippucci T, Lesieur-Sebellin M, Georget M, Schatz U, Fauth C, Louie RJ, Rogers C, Davis JM, Konstantopoulou V, Mayr JA, Bouman A, Wilke M, VanNoy GE, England EM, Park KL, Brown K, Saenz M, Novelli A, Digilio MC, Mastromoro G, Rongioletti MCA, Piacentini G, Kaiyrzhanov R, Guliyeva S, Hasanova L, Shears D, Bhatnagar I, Stals K, Klaas O, Horvath J, Bouvagnet P, Witmer PD, MacCarrick G, Cisarova K, Good JM, Gorokhova S, Boute O, Smol T, Bruel AL, Patat O, Broadbent JR, Tan TY, Tan NB, Lyonnet S, Busa T, Graziano C, Amiel J, Gordon CT. Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations. Am J Hum Genet. 2025 Apr 03; 112(4):829-845.
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Heilingoetter AL, See GB, Brookes J, Campisi P, Cervantes SS, Chadha NK, Chelius D, Chen D, Chun B, Cunningham MJ, D'Souza JN, Din T, Dzongodza T, Francom C, Gallagher TQ, Gerber ME, Gorelik M, Goudy S, Graham ME, Hartley B, Hazkani I, Hong P, Hsu WC, Isaac A, Jatana KR, Johnston DR, Kabagenyi F, Kazahaya K, Koempel J, Leboulanger N, Luscan R, Maurrasse SE, Mercier E, Peer S, Preciado D, Rahbar R, Rastatter J, Richter G, Rosenblatt SD, Shay SG, Sheyn A, Tassew Y, Walz PC, Whigham AS, Wiedermann JP, Yeung J, Maddalozzo J. Comprehensive management and classification of first branchial cleft anomalies: An International Pediatric Otolaryngology Group (IPOG) consensus statement. Int J Pediatr Otorhinolaryngol. 2024 Nov; 186:112095.
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Brugmann SA, Clouthier DE, Fantauzzo KA, Harris MP, Jeong J, Saint-Jeannet JP, Stottmann RW, Merrill AE. The society for craniofacial genetics and developmental biology 46th annual meeting. Am J Med Genet A. 2024 08; 194(8):e63615.
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Zhao J, Longo N, Lewis RG, Nicholas TJ, Boyden SE, Andrews A, Larson A, Bayrak-Toydemir P, Botto LD, Mao R. Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing. Am J Med Genet A. 2024 05; 194(5):e63516.
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Abe M, Cox TC, Firulli AB, Kanai SM, Dahlka J, Lim KC, Engel JD, Clouthier DE. GATA3 is essential for separating patterning domains during facial morphogenesis. Development. 2021 09 01; 148(17).
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Matthews HS, Palmer RL, Baynam GS, Quarrell OW, Klein OD, Spritz RA, Hennekam RC, Walsh S, Shriver M, Weinberg SM, Hallgrimsson B, Hammond P, Penington AJ, Peeters H, Claes PD. Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism. Sci Rep. 2021 06 09; 11(1):12175.
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Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, ?unap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-M?guez M, Ritter A, Bhoj E, T?nne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021 06 03; 108(6):1053-1068.
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Brugmann S, Clouthier DE, Saint-Jeannet JP, Taneyhill LA, Moody SA. The society for craniofacial genetics and developmental biology 43rd annual meeting. Am J Med Genet A. 2021 06; 185(6):1932-1939.
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Bonatto Paese CL, Brooks EC, Aarnio-Peterson M, Brugmann SA. Ciliopathic micrognathia is caused by aberrant skeletal differentiation and remodeling. Development. 2021 02 15; 148(4).
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