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 Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC.
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should never be used for diagnostic or treatment purposes. If you have questions regarding
a medical condition, always seek the advice of your physician or other qualified health
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information, we encourage you to contact your personal physician or the agencies listed as
"Resources" on this report.
Copyright 1991, 2000, 2008
NORD is very grateful to Jeffrey Ming, MD, PhD, Division of Human Genetics,The Children's Hospital of Philadelphia, for assistance in the preparation of this report.
Synonyms of Holoprosencephaly
- Alobar Holoprosencephaly
- Holoprosencephaly Sequence
- HPE
- Lobar Holoprosencephaly
- Middle interhemispheric fusion
- Semilobar Holoprosencephaly
Disorder Subdivisions
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.
Organizations related to Holoprosencephaly
- 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
Phone #: 214-559-8411
800 #: 800-421-1121
e-mail: hpe@tsrh.org
Home page: http://www.stanford.edu/group/hpe
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Independent Holoprosencephaly Support Site
Web Site on the Internet
None None None
Phone #: --
800 #: --
e-mail: hpe@att.net
Home page: http://hpe.home.att.net
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda MD 20892
Phone #: 301-496-5133
800 #: --
e-mail: N/A
Home page: http://www.nichd.nih.gov/
- Society for the Rehabilitation of the Facially Disfigured, Inc.
550 First Avenue
New York NY 10016
Phone #: 212-340-5400
800 #: --
e-mail: N/A
Home page: N/A
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