Pallister Hall Syndrome
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.
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.
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/
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/
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