Shwachman-Diamond Syndrome (SDS)

In 1964, cystic fibrosis pediatrician Harry Shwachman, pediatric hematologist Louis K. Diamond, and pathologist Martin Bodian identified what later was called Shwachman–Diamond syndrome (SDS) (Levin et al. 2015). Initially, the syndrome’s clinical presentation included exocrine pancreatic insufficiency and neutropenia. Later, in 1967, metaphyseal chondrodysplasia was also added, completing the triad of findings that are present in many affected children. After the gene was identified in 2003, the variation in the phenotype was revealed, also within families with the same mutation (Boocock et al. 2003; Donadieu et al. 2012). Later, SDS was characterized as a ribosomopathy together with other rare disorders such as cartilage-hair hypoplasia syndrome and Diamond-Blackfan anemia.