ESPE Abstracts

Introduction: MIRAGE syndrome (Myelodysplasia, Infections, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, Enteropathy, OMIM# 617053), is a congenital disorder caused by heterozygous gain of function mutations in the growth repressor gene SAMD9, inherited autosomal dominantly, although de novo variants are often reported. The syndrome was first described in 2016 and to date various cases have been reported, presenting a wide sp...