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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pallister-Hall syndrome


Other Names for this Disease
  • PHS
  • Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
  • Pallister Hall syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Pallister-Hall syndrome is a condition that affects the development of many parts of the body. Common features include extra fingers and/or toes (polydactyly), extra skin between the fingers or toes (syndactyly), an abnormal growth in the brain called a hypothalamic hamartoma, and bifid epiglottis (a malformation of the airway). Pallister-Hall syndrome is caused by mutations in the GLI3 gene. It is inherited in an autosomal dominant manner. Individuals with the condition may have an affected parent or they may have Pallister-Hall syndrome as the result of a new (de novo) mutation.[1][2][3] Treatment is based on the signs and symptoms in each individual and may require the coordinated efforts of a team of doctors.[2][3] 
Last updated: 6/14/2016

References

  1. Pallister-Hall syndrome. Genetics Home Reference. March 2006; http://ghr.nlm.nih.gov/condition/pallister-hall-syndrome.
  2. Biesecker L. Pallister-Hall syndrome. Orphanet. May 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672.
  3. Biesecker L. Pallister-Hall Syndrome. GeneReviews. December 18, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1465/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Pallister-Hall syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pallister-Hall syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • PHS
  • Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
  • Pallister Hall syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.