Shprintzen-Goldberg syndrome

Shprintzen-Goldberg syndrome is a very rare genetic disorder that affects many parts of the body. It is characterized by early fusion of skull bones (craniosynostosis) which can affect the shape of the head, along with distinct craniofacial and skeletal abnormalities. People with this condition may have features that include a marfanoid habitus (a tall and slender build), as well as heart issues, neurological abnormalities, and intellectual disability. These varied signs mean that the syndrome can affect different systems and functions in the body.

Common signs of Shprintzen-Goldberg syndrome include craniosynostosis (premature fusion of skull bones), craniofacial abnormalities, skeletal issues, a marfanoid build, cardiac anomalies, and neurological impairments, which sometimes extend to intellectual disability.

Shprintzen-Goldberg syndrome is caused by genetic changes. It is linked to mutations in the SKI gene. This change in the gene disrupts normal development and leads to the range of physical features seen in the syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.