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Diseases

Genetic and Rare Diseases Information Center (GARD)

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).[1] Many facial defects can be present; in general,  the most serious the brain defect is, the most serious the face defect will be. 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 14 different geneschromosome abnormalities, or substances or infections that cause birth defects (teratogens). It may also be a feature of several genetic syndromes, each with unique characteristics. Alobar holoprosencephaly is lethal in all cases, but people with milder types can survive for several months depending on the associated problems they might have. Treatment is symptomatic.[2][1]
Last updated: 2/24/2016

References

  1. Solomon BD, Gropman A & Muenke M. Holoprosencephaly Overview. GeneReviews. August 29, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1530/.
  2. Nonsyndromic holoprosencephaly. Genetics Home Reference. September 2010; http://ghr.nlm.nih.gov/condition/nonsyndromic-holoprosencephaly.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Holoprosencephaly in a table called Phenotypic Series. Each entry in OMIM includes 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.