"Microcephaly" 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.
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
| Descriptor ID |
D008831
|
| MeSH Number(s) |
C05.660.207.620 C10.500.507.400.500 C16.131.621.207.620 C16.131.666.507.400.500
|
| Concept/Terms |
Severe Congenital Microcephaly- Severe Congenital Microcephaly
- Congenital Microcephalies, Severe
- Congenital Microcephaly, Severe
- Microcephalies, Severe Congenital
- Microcephaly, Severe Congenital
- Severe Congenital Microcephalies
|
Below are MeSH descriptors whose meaning is more general than "Microcephaly".
Below are MeSH descriptors whose meaning is more specific than "Microcephaly".
This graph shows the total number of publications written about "Microcephaly" by people in this website by year, and whether "Microcephaly" 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 |
|---|
| 1999 | 1 | 0 | 1 |
| 2001 | 0 | 1 | 1 |
| 2004 | 1 | 0 | 1 |
| 2005 | 1 | 2 | 3 |
| 2006 | 2 | 0 | 2 |
| 2008 | 3 | 1 | 4 |
| 2009 | 1 | 2 | 3 |
| 2010 | 0 | 2 | 2 |
| 2011 | 2 | 0 | 2 |
| 2012 | 1 | 1 | 2 |
| 2013 | 5 | 1 | 6 |
| 2014 | 3 | 3 | 6 |
| 2015 | 4 | 0 | 4 |
| 2016 | 8 | 3 | 11 |
| 2017 | 8 | 4 | 12 |
| 2018 | 6 | 2 | 8 |
| 2019 | 10 | 5 | 15 |
| 2020 | 2 | 5 | 7 |
| 2021 | 6 | 3 | 9 |
| 2022 | 13 | 0 | 13 |
| 2023 | 5 | 0 | 5 |
| 2024 | 4 | 1 | 5 |
| 2025 | 1 | 2 | 3 |
| 2026 | 2 | 1 | 3 |
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click here.
Below are the most recent publications written about "Microcephaly" by people in Profiles.
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Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes. Nat Genet. 2026 Apr; 58(4):761-773.
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Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders. Nature. 2026 Jun; 654(8118):429-436.
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Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities. Am J Hum Genet. 2026 Mar 05; 113(3):548-561.
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Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures. Am J Hum Genet. 2025 07 03; 112(7):1722-1732.
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C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder. Genet Med. 2025 Jul; 27(7):101429.
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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. Nat Commun. 2025 Feb 17; 16(1):1703.
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Postnatal Zika and Dengue Infection and their Effects on Neurodevelopment Among Children Living in Rural Guatemala. Pediatr Infect Dis J. 2025 Apr 01; 44(4):290-298.
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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26(11):101218.
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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 2024 04 04; 147(4):1436-1456.
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Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report. BMC Neurol. 2024 Mar 04; 24(1):87.