Pallister Hall Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Pallister Hall Syndrome 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

  • Hall-Pallister Syndrome
  • PHS
  • Congenital hypothalamic hamartoblastoma syndrome
  • CAVE (cerebro-acro-visceral early lethality) complex

Disorder Subdivisions

  • None

General Discussion

Pallister-Hall syndrome (PHS) is an extremely rare genetic disorder that may be apparent at birth (congenital). The symptoms and findings associated with the disorder may vary greatly in range and severity from case to case. However, in many individuals with Pallister-Hall syndrome, associated abnormalities may include a malformation of the hypothalamus (hypothalamic hamartomablastoma), a portion of the brain that coordinates the function of the pituitary gland and has several other functions; decreased pituitary function (hypopituitarism); the presence of extra (supernumerary) fingers and/or toes (central or postaxial polydactyly); an abnormal division of the epiglottis (bifid epiglottis); and/or a condition in which a thin covering blocks the anal opening or the passage that normally connects the anus and the lowest part of the large intestine (rectum) fails to develop (imperforate anus). Additional symptoms and findings may include characteristic malformations of the head and facial (craniofacial) area and/or other abnormalities. Pallister-Hall syndrome has autosomal dominant inheritance. Cases in which a positive family history has not been found are thought to represent new genetic changes (mutations) that occur randomly, with no apparent cause (sporadic).
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Resources

American Brain Tumor Association
2720 River Road
Suite 146
Des Plaines, IL 60018
USA
Tel: (847)827-9910
Fax: (847)827-9918
Tel: (800)886-2282
Email: info@abta.org
Internet: http://www.abta.org

Hydrocephalus Association
870 Market Street
Suite 705
San Francisco, CA 94102
USA
Tel: (415)732-7040
Fax: (415)732-7044
Tel: (888)598-3789
Email: pip@hydroassoc.org
Internet: http://www.hydroassoc.org

Pallister-Hall Syndrome Family Support Network
RFD Box 3000
Fairground Road
Bradford, VT 05033
USA
Tel: (802)222-9683
Email: messer@sover.net

Graham, John M., Jr., M.D.
Cedars-Sinai Medical Center
444 South San Vincente Blvd.
Suite 1001
Los Angeles, CA 90048
Tel: (310)855-2211

Hydrocephalus Support Group, Inc.
P.O. Box 4236
Chesterfield, MO 63006-4236
USA
Tel: (636)532-8228
Fax: (314)251-5871
Email: hydrodb@earthlink.net

Pallister-Hall Foundation (Aust.)
Post Office Box 88
Toowoomba
Queensland, Intl 4350
Australia
Tel: +61 746 340045
Fax: +61 746 340045
Email: info@pallisterhall.com
Internet: http://www.pallisterhall.com

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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

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