Pitt-Hopkins syndrome is a genetic condition characterized by intellectual disability and developmental delay, recurrent seizures (epilepsy), distinctive facial features, and breathing problems (i.e., periodic hyperventilation followed by apnea). This condition is caused by mutations in the TCF4transcription factor gene. Pitt-Hopkins syndrome is inherited in an autosomal dominant pattern. Most cases, however, result from a new (de novo) mutation and occur on people with no history of the condition in their family. Treatment involves addressing the individual problems seen in each patient, and may include early intervention services, special education, and routine management of medicals concerns like seizures and myopia.
Last updated: 1/4/2016
What is the prognosis for individuals with Pitt-Hopkins syndrome?
Pitt-Hopkins syndrome is a non-progressive course. To learn more about how individuals with Pitt-Hopkins syndrome have fared, you can join a community message board or online support group where you can interact with other families affected by this condition. Four such groups are listed below.