GeneReview: Smith-Kingsmore Syndrome – PubMed
Authors: Carlos E Prada, Carolyn R Raski, Ghayda Mirzaa, Aaron Besterman, Darcy A Krueger, Andrew C Liu, Margaret P Adam, Sarah Bick, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
Abstract
Smith-Kingsmore syndrome (SKS) is characterized by varying degrees of overgrowth, developmental delay / intellectual disability, neurodevelopmental issues (autistic features, ADHD), and congenital anomalies. Developmental delay typically involves all aspects of development (gross motor, fine motor, speech/language). Virtually all individuals have speech delay, although speech abilities over time range from vocalizations to some verbal communication, with about 50% of individuals reportedly able to use verbal communication. Intellectual disability is frequently identified in affected individuals and typically ranges from moderate to severe. Regression in development has been reported in a minority of affected individuals. Other features of SKS include congenital hypotonia, epilepsy, sleep-wake disturbances (including insomnia and obstructive sleep apnea), macrocephaly, hyperphagia, eye anomalies, skeletal anomalies, cardiac findings (including stable aortic root dilatation), and genitourinary anomalies, most commonly in males (undescended testes and hypospadias).