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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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Your Question

What is the prognosis for Pitt-Hopkins syndrome?

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What is Pitt-Hopkins syndrome?

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

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

Pitt-Hopkins syndrome is a non-progressive course.[2] 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: 11/26/2013

References