WebPitt-Hopkins syndrome Description Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. People with Pitt-Hopkins syndrome have moderate to severe intellectual disability. Most WebSummary. Pitt-Hopkins syndrome (PTHS) is a genetic syndrome that causes developmental delays, moderate to severe intellectual disability, behavioral differences, …

Life Expectancy of Pitt-Hopkins Syndrome: Prognosis, Symptoms

WebPitt Hopkins Syndrome (PTHS) is a rare genetic disorder affecting a specific gene in chromosome 18, called TCF4. PTHS is characterized by developmental delay, possible breathing problems of episodic … WebSyndrome de Pitt-Hopkins. Définition ... Dès le début de la maladie, le développement psychomoteur est gravement perturbé avec une hypotonie, une démarche instable … onassis scholarships

About Pitt Hopkins - Pitt Hopkins Research Foundation

WebSome 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 … WebJan 15, 2024 · Ari, nicknamed “Bug,” suffers from Pitt-Hopkins Syndrome, a rare neurological disorder characterized by cognitive and developmental delays, learning disabilities and unique facial malformations, most noticeably a double curve of the upper lip. Most patients diagnosed with Pitt-Hopkins Syndrome are unable to speak and struggle … WebAug 30, 2012 · Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and … onassis rufname