ARID2 loss-of-function is associated with a rare genetic disorder characterized 
in 14 reported patients to date. ARID2 encodes a member of the SWItch/sucrose 
non-fermentable chromatin remodeling complex. Other genes encoding subunits of 
this complex, such as ARID1A, ARID1B, and SMARCA2, are mutated in association 
with Coffin-Siris syndrome (CSS) and Nicolaides Baraitser syndrome (NCBRS) 
phenotypes. Previously reported ARID2 mutations manifested clinically with a 
CSS-like phenotype including intellectual disability, coarsened facial features, 
fifth toenail hypoplasia, and other recognizable dysmorphisms. However, 
heterogeneity exists between previously reported patients with some patients 
showing more overlapping features with NCBRS. Herein, we present a patient with 
a novel disease-causing ARID2 loss-of-function mutation. His clinical features 
included intellectual disability, coarse and dysmorphic facial features, toenail 
hypoplasia, ADHD, short stature, and delayed development consistent with prior 
reports. Our patient also presented with previously unreported clinical findings 
including ophthalmologic involvement, persistent fetal fingertip and toetip 
pads, and diffuse hyperpigmentary and hypopigmentary changes sparing his face, 
palms, and soles. The anomalous skin findings are particularly of interest given 
prior literature outlining the role of ARID2 in melanocyte homeostasis and 
melanoma. This clinical report and review of the literature is further affirming 
of the characteristic symptoms and expands the phenotype of this newly described 
and rare syndrome.