This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
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.
For more information, visit GARD.