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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pitt-Hopkins syndrome


Other Names for this Disease
  • Pitt Hopkins syndrome
  • Intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea
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Overview

Pitt-Hopkins syndrome is a genetic condition characterized by intellectual disability and developmental delay, recurrent seizures (epilepsy), distinctive facial features, and breathing problems (i.e., periodic hyperventilation followed by apnea). This condition is caused by mutations in the TCF4 transcription factor gene.[1][2] Pitt-Hopkins syndrome is inherited in an autosomal dominant pattern. Most cases, however, result from a new (de novo) mutation and occur on people with no history of the condition in their family.[2] Treatment involves addressing the individual problems seen in each patient, and may include early intervention services, special education, and routine management of medicals concerns like seizures and myopia.[3]
Last updated: 1/4/2016

References

  1. Pitt-Hopkins Syndrome. Online Mendelian Inheritance in Man. January 19, 2012; http://omim.org/entry/610954. Accessed 1/4/2016.
  2. Pitt-Hopkins syndrome. Genetics Home Reference (GHR). February 2015; http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome. Accessed 1/4/2016.
  3. Ardinger HH, Welsh HI, Saunders CJ. Pitt-Hopkins Syndrome. GeneReviews. August 30, 2012; http://www.ncbi.nlm.nih.gov/books/NBK100240/. Accessed 1/4/2016.
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Basic Information

In Depth Information

  • 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 Pitt-Hopkins syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Pitt Hopkins syndrome
  • Intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.