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Diseases

Genetic and Rare Diseases Information Center (GARD)

Holoprosencephaly


Other Names for this Disease
  • HPE
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Overview

Holoprosencephaly is an abnormality of brain development in which the brain doesn't properly divide into the right and left hemispheres. The condition can also affect development of the head and face. There are 4 types of holoprosencephaly, distinguished by severity. From most to least severe, the 4 types are alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV).[1] In general, the severity of any facial defects corresponds to the severity of the brain defect. The most severely affected people have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. In the less severe forms, the brain is only partially divided, and the eyes usually are set close together. Other signs and symptoms often include intellectual disability and pituitary gland problems. Holoprosencephaly can be caused by mutations in any of at least 14 different geneschromosome abnormalities; or agents that can cause birth defects (teratogens). It may also be a feature of several unique genetic syndromes. In many cases, the exact cause is unknown. Life expectancy for people with this condition varies, and treatment depends on the symptoms and severity in each person.[2][1]
Last updated: 5/10/2016

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.