Don’t fight Pitt-Hopkins syndrome alone.
Find your community on the free RareGuru App.Pitt-Hopkins syndrome (PTHS) is a genetic syndrome that causes developmental delays, moderate to severe intellectual disability, behavioral differences, distinctive facial features, and breathing problems such as episodes of rapid breathing (hyperventilation) and breath-holding. Other features may include symptoms of autism spectrum disorder, sleep disturbances, seizures, constipation, nearsightedness, and minor skeletal abnormalities.
PTHS is caused by a mutation in the TCF4 gene, or by a loss (deletion) of the part of chromosome 18 that contains the TCF4 gene. Inheritance is autosomal dominant, but PTHS typically is not inherited from a parent, occurring sporadically due to a new mutation in people with no family history of PTHS. The diagnosis may be suspected based on signs and symptoms and can be confirmed with genetic testing.
There is no cure for PTHS, but there are ways to manage or improve many of the signs and symptoms. Management may include early intervention services for infants and young children, an individualized education plan for school-aged children, behavioral therapy, and routine treatment of seizures, nearsightedness, constipation, and skeletal abnormalities.
Source: GARD Last updated on 05-01-20
Pitt-Hopkins syndrome (PTHS) can have a variety of signs and symptoms. Specific symptoms present and their severity can vary from person to person. Early symptoms, which often become apparent in the first year of life, may include very low muscle tone (hypotonia) and significant developmental delays. Some infants have a small head size (microcephaly). Children may learn to walk months or years later than expected, and some children never acquire the skills to walk independently. Speech is significantly delayed, and while some children learn to say a few words, most do not speak. However, some are able to understand and follow simple directions. Intellectual disability generally ranges from moderate to severe.
Additional signs and symptoms of PTHS may include:
More detailed information about signs and symptoms that may occur in people with PTHS is available from the National Organization for Rare Disorders (NORD) and GeneReviews.
Last updated on 05-01-20
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
1%-4% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
Aganglionic megacolon |
Small for gestational age |
Hodgkin lymphoma |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
Pitt-Hopkins syndrome (PTHS) is a genetic syndrome that causes developmental delays, moderate to severe intellectual disability, behavioral differences, distinctive facial features, and breathing problems such as episodes of rapid breathing (hyperventilation) and breath-holding. Other features may include symptoms of autism spectrum disorder, sleep disturbances, seizures, constipation, nearsightedness, and minor skeletal abnormalities.
PTHS is caused by a mutation in the TCF4 gene, or by a loss (deletion) of the part of chromosome 18 that contains the TCF4 gene. Inheritance is autosomal dominant, but PTHS typically is not inherited from a parent, occurring sporadically due to a new mutation in people with no family history of PTHS. The diagnosis may be suspected based on signs and symptoms and can be confirmed with genetic testing.
There is no cure for PTHS, but there are ways to manage or improve many of the signs and symptoms. Management may include early intervention services for infants and young children, an individualized education plan for school-aged children, behavioral therapy, and routine treatment of seizures, nearsightedness, constipation, and skeletal abnormalities.
Last updated on 05-01-20
Pitt-Hopkins syndrome is a non-progressive course. 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 on 05-01-20
There is no cure for Pitt-Hopkins syndrome (PTHS), but there are ways to manage or improve signs and symptoms. Treatment depends on the specific symptoms and severity in each person and ideally is managed by a team of specialists with knowledge of PTHS. Treatment may involve:
Children with PTHS should continue to have developmental assessments as their needs change with age. Regular appointments with an ophthalmologist are recommended to monitor and manage vision changes and other eye conditions. Periodic evaluations with a genetics professional are also recommended, as new information about the course of PTHS and treatment options may become available.
Last updated on 05-01-20
The Pitt Hopkins Research Foundation provides information about Pitt-Hopkins syndrome.
Last updated on 04-27-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!