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Genetic and Rare Diseases Information Center (GARD)

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Pallister-Hall syndrome


Other Names for this Disease

  • Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
  • Pallister Hall syndrome
  • PHS
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Overview

Pallister-Hall syndrome can affect of many parts of the body. Common signs include extra fingers and/or toes and extra skin between the fingers or toes. People with the syndrome may have an abnormal growth in the brain called a hypothalamic hamartoma. Hypothalamic hamartomas often cause no symptoms. Rarely, infants with hypothalamic hamartomas develop serious hormone problems or seizures. Other signs of Pallister-Hall syndrome include bifid epiglottis (a malformation of the airway), an obstruction of the anal opening, and kidney abnormalities. The severity of Pallister-Hall syndrome can be mild to severe, however only a small percentage of people have serious complications. Pallister-Hall syndrome is caused by a mutation in the GLI3 gene. The mutation can be inherited from an affected parent, or can occur for the first time in a family due to a new mutation.[1]
Last updated: 12/20/2013

References

  1. Pallister-Hall syndrome. Genetics Home Reference. March 2006; http://ghr.nlm.nih.gov/condition/pallister-hall-syndrome. Accessed 12/20/2013.
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Basic Information

In Depth Information

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