Diseases

Holoprosencephaly

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

Synonyms

16 entry terms
  • Holoprosencephalies
  • Alobar Holoprosencephaly
  • Arhinencephaly
  • Holoprosencephaly, Familial Alobar
  • Lobar Holoprosencephaly
  • Semilobar Holoprosencephaly
  • Alobar Holoprosencephalies
  • Arhinencephalies
  • Holoprosencephalies, Alobar
  • Holoprosencephalies, Lobar
  • Holoprosencephalies, Semilobar
  • Holoprosencephaly, Alobar
  • Holoprosencephaly, Lobar
  • Holoprosencephaly, Semilobar
  • Lobar Holoprosencephalies
  • Semilobar Holoprosencephalies

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

91

MeSH Record

Previous Indexing

  • Abnormalities, Multiple (1966-1990)
  • Brain/abnormalities (1966-1990)

MeSH Hierarchy

Tree Numbers

  1. C05w.660w.207w.410w
  2. C10w.500w.034w.875w
  3. C16w.131w.077w.410w
  4. C16w.131w.260w.380w
  5. C16w.131w.621w.207w.410w
  6. C16w.131w.666w.034w.875w
  7. C16w.320w.180w.380w

AMA Style

References

  1. National Library of Medicine. Holoprosencephaly. Medical Subject Headings (MeSH). 2026. Unique ID D016142. http://id.nlm.nih.gov/mesh/2026/D016142
  2. Holoprosencephaly. In: Wikipedia. https://en.wikipedia.org/wiki/Holoprosencephaly
  3. Holoprosencephaly. In: Wikidata. https://www.wikidata.org/wiki/Q1459821