<unk>  is a multiple anomaly<unk>  that has craniosynostosis, multiple abdominal hernias, cognitive impairment, and other skeletal malformations as key features. Several reports have linked the<unk>  to a mutation in the FBN1 gene, but these cases do not resemble those initially described in the medical literature in 1982 by<unk>  and Goldberg, and Greally et al. in 1998 failed to find a causal link to FBN1. At this time, the cause of<unk>  has been identified as a mutation in the gene SKI located on chromosome 1 at the p36 locus. The<unk>  is rare with fewer than 50 cases described in the medical literature to date.
Shprintzen–Goldberg syndrome
Keppen–Lubinsky syndrome
Pelger–Huët anomaly
Goldberg–Shprintzen syndrome
Cohen-Gibson syndrome
Baggio–Yoshinari syndrome
Smith Martin Dodd syndrome
Kandinsky–Clérambault syndrome