In opposition to BWS, p57 gain of function mutations are associated with two very rare disorders, Silver-Russell syndrome (SRS) (OMIM # 180860) (1/100,000 birth) (Brioude et al., 2013b) and IMAGe syndrome (Intrauterine Growth Retardation, Metaphyseal dysplasia, Adrenal insufficiency, Genital abnormalities) (OMIM # 614732) (only a few dozen cases reported worldwide) (Arboleda et al., 2012). The gene discussed is CDKN1C; the disease is Metaphyseal dysplasia.