 Holoprosencephaly
"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
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| 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
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| 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
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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 |
|---|
| 2013 | 1 | 0 | 1 |
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Below are the most recent publications written about "Holoprosencephaly" by people in Profiles.
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Roberts J, Torres-Martinez W, Farrow E, Stevens A, Delk P, White KE, Weaver DD. A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome? Am J Med Genet A. 2014 Feb; 164A(2):287-90.
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