Skip to content
My WebMD Sign In, Sign Up

Children's Health

Font Size

Pallister Hall Syndrome

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).

Resources

American Brain Tumor Association
8550 W. Bryn Mawr Avenue, Suite 550
Chicago, IL 60631
USA
Tel: (773)577-8750
Fax: (773)577-8738
Tel: (800)886-2282
Email: info@abta.org
Internet: http://www.abta.org

Hydrocephalus Association
4340 East West Highway Ste 950
Bethesda, MD 20814
USA
Tel: (301)202-3811
Fax: (301)202-3813
Tel: (888)598-3789
Email: info@hydroassoc.org
Internet: http://www.hydroassoc.org

Hydrocephalus Support Group, Inc.
1933 Mistflower Glen Ct.
Chesterfield, MO 63005-4236
USA
Tel: (636)532-8228
Fax: (314)251-5871
Email: hydrob@earthlink.net

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
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
Internet: http://rarediseases.info.nih.gov/GARD/

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

Cleft Lip and Palate Foundation of Smiles
2044 Michael Ave SW
Wyoming, MI 49509
Tel: (616)329-1335
Email: Rachelmancuso09@comcast.net
Internet: http://www.cleftsmile.org

Hope for Hypothalamic Hamartoma
P. O. Box 721
Waddell, AZ 85355
Email: admin@hopeforhh.org
Internet: http://www.hopeforhh.org/community/

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

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, 2005 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: February 25, 2014
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

Today on WebMD

child with red rash on cheeks
What’s that rash?
plate of fruit and veggies
How healthy is your child’s diet?
 
smiling baby
Treating diarrhea, fever and more.
Middle school band practice
Understanding your child’s changing body.
 

worried kid
fitArticle
boy on father's shoulder
Article
 
Child with red rash on cheeks
Slideshow
girl thinking
Article
 

babyapp
New
Child with adhd
Slideshow
 
rl with friends
fitSlideshow
Syringes and graph illustration
Tool
 
6-Week Challenges
Want to know more?
Chill Out and Charge Up Challenge – How to help your tribe de-stress and energize.
Spark Change Challenge - Ready for a healthy change? Get some major motivation.
I have read and agreed to WebMD's Privacy Policy.
Enter cell phone number
- -
Entering your cell phone number and pressing submit indicates you agree to receive text messages from WebMD related to this challenge. WebMD is utilizing a 3rd party vendor, CellTrust, to provide the messages. You can opt out at any time.
Standard text rates apply