•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. The gene discussed is IGF1; the disease is Cognitive impairment.