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Holoprosencephaly MeSH Descriptor Data 2023


MeSH Heading
Holoprosencephaly
Tree 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
Unique ID
D016142
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D016142
Scope Note
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.
Entry Term(s)
Alobar Holoprosencephaly
Arhinencephaly
Holoprosencephaly, Familial Alobar
Lobar Holoprosencephaly
Semilobar Holoprosencephaly
Previous Indexing
Abnormalities, Multiple (1966-1990)
Brain/abnormalities (1966-1990)
Public MeSH Note
91
History Note
91
Date Established
1991/01/01
Date of Entry
1990/04/24
Revision Date
2014/06/10
Holoprosencephaly Preferred
Semilobar Holoprosencephaly Narrower
Lobar Holoprosencephaly Narrower
Alobar Holoprosencephaly Narrower
Arhinencephaly Related
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