Pallister Hall Syndrome

National Organization for Rare Disorders, Inc.

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.


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

Disorder Subdivisions

  • None

General Discussion

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.

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


American Brain Tumor Association
8550 W. Bryn Mawr Avenue, Suite 550
Chicago, IL 60631
Tel: (773)577-8750
Fax: (773)577-8738
Tel: (800)886-2282

Hydrocephalus Association
4340 East West Highway Ste 950
Bethesda, MD 20814
Tel: (301)202-3811
Fax: (301)202-3813
Tel: (888)598-3789

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

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

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766

Cleft Lip and Palate Foundation of Smiles
2044 Michael Ave SW
Wyoming, MI 49509
Tel: (616)329-1335

Hope for Hypothalamic Hamartoma
P. O. Box 721
Waddell, AZ 85355

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 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 or email

Last Updated:  5/14/2013
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