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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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Your Question

What is the prognosis for Pitt-Hopkins syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Pitt-Hopkins syndrome?

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

What is the prognosis for individuals with Pitt-Hopkins syndrome?

Pitt-Hopkins syndrome is a non-progressive course.[4] To learn more about how individuals with Pitt-Hopkins syndrome have fared, you can join a community message board or online support group where you can interact with other families affected by this condition. Four such groups are listed below.

The NORD Rare Disease Support Community has a message board for Pitt-Hopkins syndrome at the following link: 
http://www.inspire.com/groups/rare-disease-and-genetic-conditions/discussion/pitt-hopkins-syndrome/

MakingContact.org, a group which links families with disabled children, has a page for individuals with Pitt-Hopkins syndrome at the following link:
http://www.makingcontact.org/index.php?ci=1280

RareShare, a social hub for patients, families, and healthcare professonals affected by rare diseases, has a page for Pitt-Hopkins syndrome at the following link:
http://www.rareshare.org/communities/pitt-hopkins-syndrome

Pitt-Hopkins Support Group has been created to bring together the ideas, thoughts, and hopes of people caring for loved ones with Pitt Hopkins Syndrome. You can access their web page at the following link:
https://groups.google.com/forum/#!forum/pitt-hopkins
Last updated: 1/4/2016

References
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.