NORD gratefully acknowledges Daniel Balcarcel, NORD Editorial Intern from the University of Notre Dame, and Leslie G Biesecker, MD, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, for assistance in the preparation of this report.
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.Introduction
Pallister-Hall syndrome is named for Judith Hall and Philip Pallister who described the condition in 1980.
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