Pitt–Hopkins Syndrome: A Comprehensive Review for Healthcare and Nursing Practice

Pitt–Hopkins syndrome (PTHS) is a rare genetic neurodevelopmental disorder characterized by severe intellectual disability, distinctive facial dysmorphism, abnormal breathing patterns, epilepsy, and gastrointestinal dysfunction. The condition is caused by pathogenic variants in the TCF4 gene located on chromosome 18q21.2. Due to its rarity and phenotypic overlap with other neurodevelopmental disorders, Pitt–Hopkins syndrome is frequently underdiagnosed. Early identification and multidisciplinary intervention are essential to optimize developmental outcomes and improve quality of life. This article presents a plagiarism-safe, language-polished review of Pitt–Hopkins syndrome, focusing on etiology, clinical manifestations, diagnosis, management, and nursing implications relevant to healthcare professionals.