Group

Shprintzen-Goldberg syndrome (SGS) is a rare genetic disorder that affects connective tissue and is characterized by distinctive craniofacial features, skeletal abnormalities, developmental differences, and, in some individuals, cardiovascular problems. The condition varies considerably in severity from person to person.

Causes

Most cases are caused by changes (mutations) in the SKI gene, which plays a role in regulating cell growth and development, including signaling pathways important for connective tissue formation.