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
|
| MeSH Number(s) |
C05.660.207 C16.131.621.207
|
| Concept/Terms |
|
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 |
|---|
| 1997 | 2 | 0 | 2 |
| 1998 | 4 | 0 | 4 |
| 1999 | 0 | 1 | 1 |
| 2000 | 1 | 0 | 1 |
| 2001 | 1 | 1 | 2 |
| 2003 | 4 | 1 | 5 |
| 2004 | 1 | 1 | 2 |
| 2005 | 4 | 6 | 10 |
| 2006 | 2 | 2 | 4 |
| 2007 | 4 | 4 | 8 |
| 2008 | 5 | 3 | 8 |
| 2009 | 2 | 3 | 5 |
| 2010 | 2 | 2 | 4 |
| 2011 | 1 | 2 | 3 |
| 2012 | 4 | 1 | 5 |
| 2013 | 5 | 1 | 6 |
| 2014 | 1 | 1 | 2 |
| 2015 | 1 | 0 | 1 |
| 2016 | 2 | 0 | 2 |
| 2017 | 7 | 1 | 8 |
| 2018 | 3 | 1 | 4 |
| 2019 | 4 | 1 | 5 |
| 2020 | 11 | 1 | 12 |
| 2021 | 7 | 2 | 9 |
| 2022 | 1 | 0 | 1 |
| 2023 | 1 | 0 | 1 |
| 2024 | 2 | 2 | 4 |
| 2025 | 0 | 1 | 1 |
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Below are the most recent publications written about "Craniofacial Abnormalities" by people in Profiles.
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TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies. J Med Genet. 2025 Jan 27; 62(2):126-137.
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Discussion: Integration of the CLEFT-Q Patient-Reported Outcome Tool into a Multidisciplinary Cleft and Craniofacial Clinic: A Proof of Concept. Plast Reconstr Surg. 2024 08 01; 154(2):356e-357e.
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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. Am J Hum Genet. 2024 Aug 08; 111(8):1605-1625.
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Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals. J Med Genet. 2024 May 21; 61(6):578-585.
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DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations. Genet Med. 2024 Jul; 26(7):101126.
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Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. J Med Genet. 2023 11; 60(11):1092-1104.
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Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 07; 43(7):900-918.
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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 10; 9(10):e1809.
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Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 10; 23(10):1889-1900.
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Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes. Sci Rep. 2021 05 28; 11(1):11295.