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: 8478279910
Fax: 8478279918
Tel: 8008862282
Email: info@abta.org
Internet: http://www.abta.org

Hydrocephalus Association
870 Market Street
Suite 705
San Francisco, CA 94102
USA
Tel: 4157327040
Fax: 4157327044
Tel: 8885983789
Email: info@hydroassoc.org
Internet: http://www.hydroassoc.org

Pallister-Hall Syndrome Family Support Network
RFD Box 3000
Fairground Road
Bradford, VT 05033
USA
Tel: 8022229683
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: 6365328228
Fax: 3142515871
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 (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: 9203365333
Fax: 9203390995
Tel: 8773365333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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:  4/11/2008
Copyright  1994, 1998, 2003, 2005National Organization for Rare Disorders, Inc.