Shwachman-Diamond syndrome is a rare, inherited condition that has effects throughout the body. It causes poor absorption of fats due to a condition called exocrine pancreatic insufficiency. It is also characterized by a bone-marrow dysfunction, resulting in a lack of white blood cells, which fight off infection.
This increases susceptibility to ear infections, skin infections and pneumonia. Red blood cell counts may also be affected. The bone-marrow disorder increases risks of myelodysplastic syndrome and acute myeloid leukemia.
Additional affects may include skeletal changes such as abnormal bone development in the ribs and arms and legs. This causes thickening of the ribs and connecting tissue and growth delay in children, who will be under-height for their ages.