Pallister Hall Syndrome / Disease

Diseases & Conditions

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Pallister Hall Syndrome

Synonyms of Pallister Hall Syndrome

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

Disorder Subdivisions

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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Organizations related to Pallister Hall Syndrome

American Brain Tumor Association
2720 River Road
Des Plaines IL 60018
Phone #: 847-827-9910
800 #: 800-886-2282
e-mail: [email protected]
Home page: http://www.abta.org
Graham, John M., Jr., M.D.
Cedars-Sinai Medical Center
Los Angeles CA 90048
Phone #: 310-855-2211
800 #: --
e-mail: N/A
Home page: N/A
Hydrocephalus Association
870 Market Street
San Francisco CA 94102
Phone #: 415-732-7040
800 #: 888-598-3789
e-mail: [email protected]
Home page: http://www.hydroassoc.org
Hydrocephalus Support Group, Inc.
P.O. Box 4236
Chesterfield MO 63006-4236
Phone #: 636-532-8228
800 #: --
e-mail: [email protected]
Home page: N/A
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
Home page: http://www.madisonsfoundation.org
Pallister-Hall Foundation (Aust.)
Post Office Box 88
Queensland Intl 4350
Phone #: +61- 74-6 340045
800 #: N/A
e-mail: [email protected]
Home page: http://www.pallisterhall.com
Pallister-Hall Syndrome Family Support Network
RFD Box 3000
Bradford VT 05033
Phone #: 802-222-9683
800 #: --
e-mail: [email protected]
Home page: N/A

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