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Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. People who have this syndrome have a combination of unique facial features and skeletal and neurological abnormalities. Shprintzen-Goldberg syndrome is caused by genetic changes (mutations) in a gene that contributes to the formation of connective tissue.

  • How prevalent is Shprintzen-Goldberg syndrome?

  • What are the characteristics of Shprintzen-Goldberg syndrome?

  • How is Shprintzen-Goldberg syndrome diagnosed?

  • What causes Shprintzen-Goldberg syndrome?

Find these answers and more in the "Shprintzen-Goldberg Syndrome" download.