Study of the Correlation between Phenotype - Including Acute Leukemia/MDS- and Genotype in Shwachman Diamond Syndrome in 60 Patients from the French SCN Registry.

Shwachman Diamond syndrome (SDS) is a rare multi organ genetic disease bearing a very high risk of haematological complications i.e. MDS/leukaemia and Bone Marrow Failure. The aim of this study is to explore genotype predisposition of the major complications observed in SDS's patients and to explore prognosis factors of MDS/leukaemia.