Shwachmann-Diamond Syndrome (SBDS)
Shwachmann-Diamond Syndrome is an autosomal recessive disorder caused by pathogenic variants in the gene SBDS. The age of onset of this disorder is infancy or early childhood. Clinical manifestations include bone marrow dysfunction with cytopenias, pancreatic insufficiency, and skeletal abnormalities. Affected individuals may have recurrent infections due to the cytopenias as well as increased susceptibility of myelodysplastic syndrome and acute myeloid leukemia. Pancreatic insufficiency causes poor food digestion and absorption, resulting in foul smelling stools and growth delays. Skeletal abnormalities include low bone density, narrow rib cage and ribs, and short stature. Life expectancy is possibly reduced. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.