Sotos syndrome is a well-described multiple anomaly syndrome characterized by 
overgrowth, distinctive craniofacial appearance, and variable learning 
disabilities. The diagnosis of Sotos syndrome relied solely on these clinical 
criteria until haploinsufficiency of the NSD1 gene was identified as causative. 
We describe a 63-year-old woman with classic features and a pathogenic NSD1 
mutation, who we believe to be the oldest reported person with Sotos syndrome. 
She is notable for the diagnosis of Sotos syndrome late in life, mild cognitive 
limitation, and chronic kidney disease attributed to fibromuscular dysplasia for 
which she recently received a transplant. She has basal cell and squamous cell 
carcinoma for which her lifetime of sun exposure and fair cutaneous phototype 
are viewed as risk factors. We also reviewed previous literature reports 
(n = 11) for adults with Sotos syndrome, and studied patients ascertained in the 
Spanish Overgrowth Syndrome Registry (n = 15). Analysis was limited to 21/27 
(78%) total patients who had molecular confirmation of Sotos syndrome (15 with a 
mutation, 6 with a microdeletion). With a mean age of 26 years, the most common 
features were learning disabilities (90%), scoliosis (52%), eye problems (43%), 
psychiatric issues (30%), and brain imaging anomalies (28%). Learning 
disabilities were more severe in patients with a microdeletion than in those 
with a point mutation. From this small study with heterogeneous ascertainment we 
suggest modest adjustments to the general healthcare monitoring of individuals 
with Sotos syndrome. Although this series includes neoplasia in four cases, this 
should not be interpreted as incidence. Age-appropriate cancer surveillance 
should be maintained.