Holoprosencephaly

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
Arhinencephaly
Familial Alobar Holoprosencephaly
Holoprosencephaly Malformation Complex
Holoprosencephaly Sequence
HS
Lobar Holoprosencephaly
Semilobar Holoprosencephaly

Disorder Subdivisions

None

General Discussion

Holoprosencephaly is the failure of the prosenceplon section of the forebrain (the part of the brain in the fetus that evolves into parts of the adult brain) to develop. This causes defects in the development of the middle of the face and in brain structure and function. Closely set eyes (hypotelorism), missing front teeth (incisors), and an abnormally small head (microcephaly) may occur. Rarely, severely affected infants are born with cyclopia (the eyes fused into one) and a deformed or absent nose.

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

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: 2145598411
Fax: 2145598383
Tel: 8004211121
Email: hpe@tsrh.org
Internet: http://www.stanford.edu/group/hpe

Birth Defect Research for Children, Inc.
930 Woodcock Rd
Suite 225
Orlando, FL 32803
USA
Tel: 4078950802
Fax: 4078950824
Email: staff@birthdefects.org
Internet: http://www.birthdefects.org

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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 4/2/2008
Copyright 1991, 2000 National Organization for Rare Disorders, Inc.

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