[3] At this time, the cause of Shprintzen–Goldberg syndrome has been identified as a mutation in the gene SKI located on chromosome 1 at the p36 locus.

[citation needed] People with Shprintzen-Goldberg syndrome can experience a range of symptoms that vary in severity.

Due to craniosynostosis, people with SGS may have a long and narrow head, wide spaced protruding eyes that may slant downwards, a high and narrow palate, a high and prominent forehead, a small lower jaw, and low-set posteriorly-rotated ears.

Some other skeletal abnormalities people with SGS may experience include joint hypermobility, clubfoot, scoliosis, camptodactyly, arachnodactyly, long limbs, and a chest which appears to sink in or stick out.

Other symptoms that may be experienced include brain abnormalities (e.g.,hydrocephalus), developmental delays, intellectual disability, gastrointestinal problems (e.g., constipation, gastroparesis, etc.