Holoprosencephaly

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Holoprosencephaly is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Alobar Holoprosencephaly
  • Holoprosencephaly Sequence
  • Lobar Holoprosencephaly
  • Semilobar Holoprosencephaly
  • HPE
  • Middle interhemispheric fusion

Disorder Subdivisions

  • None

General Discussion

Holoprosencephaly (HPE) is the failure of the prosencephalon (a region of the brain in the fetus that develops into parts of the adult brain), or forebrain, to develop normally. Instead of the normal completely distinct left and right halves of the forebrain, there is an abnormal continuity between the two sides. Mental retardation is associated and seizures are often present. Children with holoprosencephaly may also have defects in the development of the middle of the face such as closely set eyes (hypotelorism), tooth abnormalities (single central incisor), cleft lip/palate, and an abnormally small head (microcephaly) may occur.

Resources

Society for the Rehabilitation of the Facially Disfigured, Inc.
550 First Avenue
New York, NY 10016
Tel: (212)340-5400

Independent Holoprosencephaly Support Site
Web Site on the Internet
Email: hpe@att.net
Internet: http://hpe.home.att.net

NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda, MD 20892
Tel: (301)496-5133
Fax: (301)496-7101
Internet: http://www.nichd.nih.gov/

Carter Centers for Brain Research in Holoprosencephaly and Related Malformations
Texas Scottish Rite Hospital for Children
Department of Neurology
2222 Welborn Street
Dallas, TX 75219-9842
USA
Tel: (214)559-8411
Fax: (214)559-8383
Tel: (800)421-1121
Email: hpe@tsrh.org
Internet: http://www.stanford.edu/group/hpe

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

related physicians

related services

Bon Secours International| Sisters of Bon Secours USA| Bon Secours Health System

This information does not replace the advice of a doctor. Healthwise disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. Privacy Policy. How this information was developed to help you make better health decisions.