Shwachman Diamond Syndorme

First described in 1964, Shwachman-Diamond Syndrome(SDS) is a relatively rare genetic disorder that occurs in approximately one in 50,000 births. SDS involves the pancreas, bone marrow and skeleton, it also affects many other organs in the body. Primary features of SDS include a defect in the pancreas that leads to difficulties in digesting food, hematologic (blood) problems with inadequate production of some types of white blood cells, skeletal abnormalities, and short stature. The hematologic problems make …

…D,E,and K) should be given daily. The diet should provide protein and energy adequate for nutritional needs and may require supplementation with high calorie foods or prepared supplements. Infections should be treated vigorously with appropriate antibiotics. Bleeding problems and anemia may require blood and platelet transfusions or other intervention (such as DDAVP). Hip disease should be monitored closely and may require surgical intervention. Developmental delays may be helped by physical and speech therapy.