Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder. Approximately 90 % of patients with SDS have biallelic mutations in the Shwachman-Bodian-Diamond-Syndrome gene, which encodes a protein involved in the ribosome maturation. SDS is characterized by exocrine pancreatic insufficiency, bone marrow dysfunction and skeletal deformities.
Immunologic, hepatic and cardiac disorders may also be present. Pancreatic lipomatosis may be seen on imaging. Pancreatic insufficiency improves with age in many patients. Neutropenia is evident in most individuals with SDS, and approximately 50 % have anaemia or thrombocytopenia. Bone marrow examination usually shows hypocellularity. Patients with SDS may develop aplastic anaemia, myelodysplastic syndrome or acute myelogenous leukemia. Skeletal manifestations of SDS include short stature, rib cage dysplasia, metaphyseal dysostosis and osteoporosis. Medications used to treat SDS include p.o. pancreatic enzymes, fat-soluble vitamins (A, D, E and K) and granulocyte-colony stimulating factor (G-CSF). Even with adequate pancreatic enzyme replacement, most patients with SDS remain at or below the 3rd percentile for height.