Shwachman-Bodian-Diamond syndrome Q87.-

Shwachman-Diamond syndrome is an autosomal recessive multisystem disorder caused by mutations in the SBDS gene, characterized by exocrine pancreatic dysfunction, bony metaphyseal dysostosis and varying degrees of bone marrow dysfunction with cytopenias and associated immunodeficiency.

Myelodysplastic syndrome or acute myeloid leukemia occurs in up to one-third of patients.

Shwachman et al (1964) described a syndrome with pancreatic insufficiency (suggesting cystic fibrosis of the pancreas but with normal sweat electrolytes and no respiratory symptoms) and pancytopenia. In one sibling group, there were 2 affected brothers and one affected female. The same syndrome was described by Nezelof and Watchi (1961) and later by other authors such as Pringle et al (1968). Goldstein described a female fraternal twin. Affected siblings were described by Burke et al. (1967). Pringle et al (1968) observed associated skeletal changes of the metaphyseal dysostosis type. These are of interest because of the digestive abnormalities (not yet well characterized) and hematologic changes in cartilage-hair hypoplasia (250250), a form of metaphyseal chondrodysplasia. The exocrine pancreas is replaced by fat, whereas the islets of Langerhans are normal.

Shwachman et al (1964) described a syndrome with pancreatic insufficiency (suggesting cystic fibrosis of the pancreas but with normal sweat electrolytes and no respiratory symptoms) and pancytopenia. In one sibling group, there were 2 affected brothers and one affected female. The same syndrome was described by Nezelof and Watchi (1961) and later by other authors such as Pringle et al (1968). Goldstein described a female fraternal twin. Affected siblings were described by Burke et al. (1967). Pringle et al (1968) observed associated skeletal changes of the metaphyseal dysostosis type. These are of interest because of the digestive abnormalities (not yet well characterized) and hematologic changes in cartilage-hair hypoplasia (250250), a form of metaphyseal chondrodysplasia. The exocrine pancreas is replaced by fat, whereas the islets of Langerhans are normal.

1. Burke V et al (1967) Association of pancreatic insufficiency and chronic neutropenia in childhood. Arch Dis Child 42: 147-157.
2. Goldstein R (1968) Congenital lipomatosis of the pancreas. Malabsorption, dwarfism, leukopenia with relative granulocytopenia and thrombocytopenia. Clin Pediat 7: 419-422.
3. Nezelof C et al. (1961) L'hypoplasie congenitale lipomateuse du pancreas exocrine chez l'enfant (Deux observations et revue de la litterature). Arch Franc Pediat. 18: 1135-1172.
4. Pringle EM et al (1968) Syndrome of pancreatic insufficiency, blood dyscrasia and metaphyseal dysplasia. Proc Roy Soc Med 61: 776-777.
5. Shwachman H et al (1964) The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediat 65: 645-663.