The Main Signs of Pitt-Hopkins syndrome

What ?

Pitt-Hopkins is a genetic syndrome which is believed to occur in between 1-9 in every 1 million people. It is a rare disease. 

It is caused by mutations in the TCF4 gene, located on chromosome 18. It is not considered to be an inheritable condition, and the gene mutations which trigger it are new and spontaneous mutations which occur during reproduction. 

The syndrome is a multi-system disease, meaning it affects multiple parts and systems of the body. 

What are the main signs?

The main signs and symptoms of Pitt-Hopkins are many and varied, affecting many body systems.

One of the initial signs of the syndrome is seizures. These may vary in terms of their frequency and severity between affected individuals. 

Some of the main signs of Pitt-Hopkins are the unique facial features characteristic to this genetic syndrome. These specific facial features include deep set eyes, myopia, a broad nasal bridge, large mouth, tented upper lip, widely spaced teeth, a wide and shallow palate, and thick ears. 

Intellectual disability and general developmental delays are common with the syndrome. These delays include a lack of speech development, even in adulthood, and behavioral problems.

Medical conditions associated with this genetic disorder include issues with the gastrointestinal system, as well as rapid breathing accompanied by breath holding. 

Pitt-Hopkins syndrome and genetic counseling

Anyone undergoing genetic diagnosis and testing for Pitt-Hopkins syndrome should have access to essential genetic counseling sessions. 

Genetic counseling is important when it comes to diagnosing a rare disease for many reasons, and important when it comes to understanding the main signs of Pitt-Hopkins. 

These reasons include:

-It provides important education and knowledge about a rare disease

-It provides an understanding of rare disease symptoms

-It provides accurate recommendations for specific genetic tests dependent on the genetic syndrome suspected

-It provides support through the process of testing, including interpreting and navigating test results

-It provides emotional support through a rare disease diagnosis

-It increases the overall accuracy of the rare disease diagnosis process which improves health outcomes for rare disease patients

Genetic counseling is an essential service when it comes to a Pitt-Hopkins diagnosis, and to further understanding the causes and symptoms of this syndrome. 


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