Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder caused by mutations of the transcription factor 4 (Tcf4) gene. Individuals with PTHS often suffer from severe abdominal bloating and constipation. In this short communication, we discuss two individuals with PTHS who died unexpectedly due to gastrointestinal complications. We aim to increase awareness among healthcare professionals who care for individuals with PTHS, to ensure adequate screening and management of gastrointestinal symptoms in this population. Moreover, we discuss how fatal gastrointestinal complications may be related to PTHS and provide an overview of the literature.
Original languageEnglish
Pages (from-to)855-858
JournalAmerican journal of medical genetics. Part A
Issue number3
Early online date13 Dec 2022
Publication statusPublished - Mar 2023


  • aerophagia
  • bloating
  • constipation
  • pitt-hopkins
  • tcf4
  • volvulus

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