"Holoprosencephaly" 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.
Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
| Descriptor ID |
D016142
|
| MeSH Number(s) |
C05.660.207.410 C10.500.034.875 C16.131.077.410 C16.131.260.380 C16.131.621.207.410 C16.131.666.034.875 C16.320.180.380
|
| Concept/Terms |
Semilobar Holoprosencephaly- Semilobar Holoprosencephaly
- Holoprosencephalies, Semilobar
- Holoprosencephaly, Semilobar
- Semilobar Holoprosencephalies
Lobar Holoprosencephaly- Lobar Holoprosencephaly
- Holoprosencephalies, Lobar
- Holoprosencephaly, Lobar
- Lobar Holoprosencephalies
Alobar Holoprosencephaly- Alobar Holoprosencephaly
- Alobar Holoprosencephalies
- Holoprosencephalies, Alobar
- Holoprosencephaly, Alobar
- Holoprosencephaly, Familial Alobar
|
Below are MeSH descriptors whose meaning is more general than "Holoprosencephaly".
Below are MeSH descriptors whose meaning is more specific than "Holoprosencephaly".
This graph shows the total number of publications written about "Holoprosencephaly" by people in this website by year, and whether "Holoprosencephaly" 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 | 1 | 0 | 1 |
| 2001 | 0 | 1 | 1 |
| 2002 | 2 | 0 | 2 |
| 2003 | 3 | 0 | 3 |
| 2006 | 1 | 0 | 1 |
| 2008 | 1 | 0 | 1 |
| 2009 | 5 | 0 | 5 |
| 2011 | 2 | 0 | 2 |
| 2012 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2021 | 1 | 0 | 1 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Holoprosencephaly" by people in Profiles.
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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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Patterns of congenital anomalies among individuals with trisomy 13 in Texas. Am J Med Genet A. 2021 06; 185(6):1787-1793.
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A case of rare isolated agnathia and literature review. Am J Med Genet A. 2020 10; 182(10):2409-2416.
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Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia. Eur J Med Genet. 2018 May; 61(5):257-261.
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Chiari II malformation and syntelencephaly in a young woman: coincidence or pathogenetic association? Clin Neuroradiol. 2013 Dec; 23(4):319-21.
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Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2. Am J Med Genet A. 2011 Jul; 155A(7):1574-80.
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Partial trisomy 10p12.33 and partial monosomy 13q32.1: case report and a literature review. Genet Couns. 2011; 22(3):263-72.
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Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J Med Genet. 2010 Aug; 47(8):513-24.
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Holoprosencephaly in an 8.5-week triploidy gestation. Clin Dysmorphol. 2009 Jul; 18(3):166-167.
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Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. Mol Genet Metab. 2009 Sep-Oct; 98(1-2):225-34.