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Genetic and Rare Diseases Information Center (GARD)

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Pitt-Hopkins syndrome


Other Names for this Disease

  • Mental retardation, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea
  • Pitt Hopkins syndrome
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Overview

Pitt-Hopkins syndrome is a genetic condition characterized by intellectual disability, a wide mouth, other distinctive facial features, and abnormal breathing (i.e., periodic hyperventilation followed by apnea). It is believed that the syndrome is associated with mutations in the TCF4 transcription factor gene. The majority of cases reported thus far are believed to be sporadic; therefore, most of the individuals who have Pitt-Hopkins syndrome do not have any family members with the condition.[1] Treatment is symptomatic.
Last updated: 11/26/2013

References

  1. Pitt-Hopkins Syndrome. Online Mendelian Inheritance in Man. January 19, 2012; http://omim.org/entry/610954. Accessed 11/26/2013.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Pitt-Hopkins syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Mental retardation, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea
  • Pitt Hopkins 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.