Shprintzen–Goldberg syndrome is a multiple anomaly
syndrome that has
craniosynostosis
Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpe ...
, multiple abdominal
hernia
A hernia is the abnormal exit of tissue or an organ (anatomy), organ, such as the bowel, through the wall of the cavity in which it normally resides. Various types of hernias can occur, most commonly involving the abdomen, and specifically the gr ...
s,
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.
At this time, the cause of Shprintzen–Goldberg syndrome has been identified as a mutation in the gene SKI located on chromosome 1 at the p36 locus. The syndrome is rare with fewer than 50 cases described in the medical literature to date.
See also
*
Craniosynostosis
Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpe ...
References
External links
Congenital disorders
Rare syndromes
{{congenital-malformation-stub