Mosaic <scp><i>KRAS</i></scp> Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping <scp>Oculoectodermal Syndrome</scp> and <scp>Encephalocraniocutaneous Lipomatosis</scp> Features

We report a patient with clinically confirmed Schimmelpenning-Feuerstein-Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.(Ala146Thr) mutation, previously identified in three OES and ECCL patients. These findings corroborate the evidence of SFM syndrome being a mosaic RASopathy, broaden the phenotypic spectrum of oculocutaneous mosaic RASopathies, and indicate SFM syndrome as a continuum of the OES-ECCL disorder spectrum.