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: info@abta.org
      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: pip@hydroassoc.org
      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: hydrodb@earthlink.net
      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: mums@netnet.net
      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: getinfo@madisonsfoundation.org
      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: info@pallisterhall.com
      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: messer@sover.net
      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