What is SETBP1-disorder?
Other mutations in the SETBP1 gene are associated with learning problem or intellectual disability and a decrease in expressive language. This disorder is completely different compared to Schinzel-Giedion syndrome (SGS) and individuals with this disorder do not show an increased risk to develop symptoms as mentioned under the heading ‘Schinzel-Giedion syndrome’.
Individuals with SETBP1 disorder show an apparent discrepancy between expressive and receptive language skills. A complete lack of expressive speech and intact receptive language abilities have been noted in a few individuals. These individuals were able to communicate using gestures and mimic expression of face and body with surprising efficacy. Other features included decreased fine motor skills (such as drawing), subtle facial features, hyperactivity and autistic traits.
This disorder also occurs in people with no history of the disorder in the family. Only a handful individuals with this disorder have been reported in medical literature. More clinical information about new individuals with a SETBP1 mutation will be needed to establish reliable information about clinical findings regarding SGS and SETBP1 disorder.