“…Crisponi syndrome/ CISS1 can be suspected in the presence of the following clinical triad: camptodactyly with fisted hands, intermittent hyperthermia and muscular contractions with feeding difficulties. Considering the overlapping symptoms, differential diagnosis to be made are as follows: CNTFRrelated genodermatoses affecting other receptor ligands (CLCF1, LIFR, and KLHL7), neonatal tetanus, Pierre Robin sequence, hereditary hyperekplexia, oculoauriculovertebral syndrome, Bowen-Conradi syndrome, Pena-Shokeir syndrome, Freeman-Sheldon/Sheldon-Hall syndromes, trisomy 18, and MEVA (Crisponi, 1996;Shires and Chow, 2015).…”