The higher risk of serious implications for the respiratory health and the frequent need for hospitalization affecting patients’ quality of life are elements of CS/CISS1 shared with other syndromes, including Down syndrome (DS, OMIM 190685), CTNNB1 syndrome (OMIM #116806), CHARGE syndrome (CS, OMIM #214800), and cardiofaciocutaneous syndrome (CFCS, OMIM#PS115150) [24,25,26,27]. Here, CRLF1 is linked to Cowden syndrome 1.