Roberta Onesimo, Valentina Giorgio, Germana Viscogliosi, Elisabetta Sforza, Eliza Kuczynska, Gaia Margiotta, Mariella Iademarco, Francesco Proli, Donato Rigante, Giuseppe Zampino, Chiara Leoni
Noonan, Costello, and cardio-facio-cutaneous syndrome are neurodevelopmental disorders belonging to the RASopathies, a group of syndromes caused by alterations in the RAS/MAPK pathway. They are characterized by similar clinical features, among which feeding difficulties, growth delay, and gastro-intestinal disorders are frequent, causing pain and discomfort in patients. Hereby, we describe the main nutritional and gastrointestinal issues reported in individuals with RASopathies, specifically in Noonan syndrome, Noonan syndrome-related disorders, Costello, and cardio-facio-cutaneous syndromes...
December 14, 2022: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics