•Short stature•Chest deformity•Characteristic facial features•PS (45%-70% of patients)•Atrial septal defects•Less likely to have HCM•Hematologic abnormalities•Low IGF-I•No or mild cognitive impairment (especially in association with N308S variant)•Development of malignancies•Potentially elevated risk of hearing loss•More common in familial versus sporadic NS cases•Cryptorchidism. This evidence concerns the gene IGF1 and hearing loss disorder.