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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.
References
- Pitt-Hopkins Syndrome. Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610954. Accessed March 03, 2009.
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On this page
General Information
- Genetics Home Reference (GHR) contains information on Pitt-Hopkins syndrome. Click on the link to go to GHR and review the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pitt-Hopkins syndrome. Click on the link to go to OMIM and review these resources.