Pitt-Hopkins Syndrome (PTHS): Symptoms & Prognosis - Cleveland Clinic
WEBPitt-Hopkins syndrome is a genetic condition that affects brain and nervous system development. It causes developmental and intellectual disabilities. People with PTHS typically have changes to the structure of their face and …
Pitt-Hopkins syndrome | About the Disease | GARD - Genetic and …
WEBPitt-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 …
Pitt-Hopkins Syndrome - Symptoms, Causes, Treatment | NORD
WEBAug 10, 2020 · Learn about Pitt-Hopkins Syndrome, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find.
Pitt-Hopkins syndrome - MedlinePlus
WEBPitt-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 …
Pitt–Hopkins syndrome - Wikipedia
WEBPitt–Hopkins syndrome (PTHS) is a rare genetic disorder characterized by developmental delay, moderate to severe intellectual disability, [1] distinctive facial features, and possible intermittent hyperventilation followed by apnea. [2]
Pitt-Hopkins Syndrome - GeneReviews® - NCBI Bookshelf
WEBAug 30, 2012 · Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder characterized by developmental delay, intellectual disability, behavioral differences, distinctive facial features, and unusual breathing patterns.
About Pitt Hopkins - Pitt Hopkins Research Foundation
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 hyperventilation and/or breath-holding while awake, recurrent seizures/epilepsy, gastrointestinal issues, lack of speech, and distinctive facial ...
Causes and Inheritance - Pitt Hopkins Research Foundation
WEBPitt Hopkins Syndrome (PTHS) is caused by the deletion or mutation of the TCF4 gene on chromosome 18q21.2. Pitt Hopkins Syndrome: Causes and Patterns of Inheritance. Author: Raoul CM Hennekam MD PhD, Professor of Paediatrics and Translational Genetics, University of Amsterdam, The Netherlands, Summer 2010.
Pitt-Hopkins Syndrome - Medical Genetics Summaries - NCBI Bookshelf
WEBMar 8, 2012 · Pitt-Hopkins syndrome is characterized by distinctive facial features (e.g., deep-set eyes, prominent nose, wide mouth with widely spaced teeth), global developmental delay, and moderate-severe intellectual disability. Breathing problems and epilepsy often occur.
Orphanet: Pitt-Hopkins syndrome
WEBA rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit, characteristic facial morphology and problems of abnormal and irregular breathing. ORPHA:2896. Classification level: Disorder. Prevalence: Unknown. Inheritance: Autosomal dominant. Age of onset: Infancy, Neonatal. ICD-10: Q87.0. ICD-11: LD2F.1Y.