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.
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 most individuals with PHS the 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
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Cleft Lip and Palate Foundation of Smiles
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Genetic and Rare Diseases (GARD) Information Center
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Hope for Hypothalamic Hamartomas
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Hydrocephalus Support Group, Inc.
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 3/21/2016
Copyright 2016 National Organization for Rare Disorders, Inc.
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