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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

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

Disorder Subdivisions

  • None

General Discussion

Summary

Pallister-Hall syndrome (PHS) is an extremely rare genetic disorder that is typically apparent at birth. The symptoms and findings associated with the disorder may vary greatly in range and severity from patient to patient. However, in many individuals with PHS-associated abnormalities may include the presence of extra fingers and/or toes; an abnormal division of the epiglottis (bifid epiglottis); a malformation of the hypothalamus (hypothalamic hamartoma), a portion of the brain that coordinates the function of the pituitary gland and has several other functions; decreased pituitary function; 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 area and/or other abnormalities. PHS is inherited in an autosomal dominant pattern and is caused by mutations (gene changes) in the GLI3 gene.



Introduction

Pallister-Hall syndrome is named for Judith Hall and Philip Pallister who described the condition in 1980.

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



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 MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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:  5/14/2013

Copyright  1994, 1998, 2003, 2005, 2013 National Organization for Rare Disorders, Inc.

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