Tags: Disease.
Shprintzen–Goldberg syndrome is a multiple anomaly syndrome that has craniosynostosis multiple abdominal hernias cognitive impairment and other skeletal malformations as key features. Several reports have linked the syndrome to a mutation in the FBN1 gene but these cases do not resemble those initially described in the medical literature in 1982 by Shprintzen and Goldberg and Greally et al. in 1998 failed to find a causal link to FBN1.