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Genetic and Rare Diseases Information Center (GARD)

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Holoprosencephaly


Other Names for this Disease

  • HPE
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. There are four types of holoprosencephaly according to the degree of brain division. From most to least severe, the types are known as alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). The most severely affected individuals have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. In the less severe forms, the brain is partially divided and the eyes are usually set close together (hypotelorism). Holoprosencephaly can be caused by mutations in a single gene, chromosome abnormalities, or substances that cause birth defects (teratogens).[1]
Last updated: 9/30/2010

References

  1. Nonsyndromic holoprosencephaly. Genetics Home Reference. September 2010; http://ghr.nlm.nih.gov/condition/nonsyndromic-holoprosencephaly. Accessed 9/30/2010.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Holoprosencephaly. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • HPE
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.