Pitt-Hopkins Syndrome synonyms
What other names are the Pitt-Hopkins Syndrome known by? Synonyms and other terms with which Pitt-Hopkins Syndrome is known.
Pitt-Hopkins Syndrome, also known as PTHS, is a rare genetic disorder that affects the development and functioning of various parts of the body. It was first identified in 1978 by Drs. Pitt and Hopkins, hence the name. PTHS is characterized by a distinct set of symptoms and features, which can vary in severity from person to person.
Some synonyms or alternative names for Pitt-Hopkins Syndrome include:
- PTHS
- Pitt Hopkins
- Pitt-Hopkins disorder
- Intellectual disability with distinctive facial features and seizures
- PTHS1
- Encephalopathy, severe epileptic, with autonomic dysfunction
Individuals with Pitt-Hopkins Syndrome often exhibit intellectual disability ranging from moderate to severe. They may also have distinctive facial features such as a wide mouth, deep-set eyes, and a prominent nose. Additionally, many individuals with PTHS experience seizures of varying types and frequencies.
Other common features of Pitt-Hopkins Syndrome include developmental delays in motor skills, speech, and language. Individuals may have hyperventilation episodes or breathing abnormalities that can lead to autonomic dysfunction. Gastrointestinal issues, such as constipation and gastroesophageal reflux, are also frequently observed.
It is important to note that while these synonyms and descriptions provide an overview of Pitt-Hopkins Syndrome, each individual may present with a unique combination of symptoms and severity. Genetic testing is typically required to confirm a diagnosis of PTHS.
