RMRP and Disproportionate short-limb short stature: RMRP mutations are associated with cartilage hair hypoplasia-Anauxetic dysplasia (CHH-AD) spectrum disorders, associated with a range of symptoms including short-limbed dwarfism, skeletal dysplasia, hair abnormalities, immunodeficiency and bone marrow failure, gastrointestinal disorders, cognitive defects, and cancer susceptibility [52, 54].