P121: Characterizing the burden of gastrointestinal disease in PTPN11-related Noonan syndrome: A single center retrospective cohort study*
Abstract
Noonan syndrome (NS) is a clinically and genetically heterogeneous multisystemic disorder often associated with profound gastrointestinal involvement resulting in one of the main areas of concern for individuals with NS and their caregivers. Feeding difficulties, growth delay, and gastrointestinal disorders are frequently associated with pain and discomfort majorly impacting quality of life. Feeding problems are routinely reported in infancy, childhood, and even beyond those periods. Gastrointestinal issues need further characterization to inform tailored management and treatment.
Fields of Study & Subjects
Protein Tyrosine Phosphatases
Genomics and Rare Diseases
Immunodeficiency and Autoimmune Disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103615–103615
- Publication date
- 1 January 2026
- Language
- EN