Shwachman Diamond Syndrome

Shwachman Diamond Syndrome (SDS) is an inherited condition that affects mainly the bone marrow, pancreas, and skeletal system of the human body. Bone marrow produces new blood cells; however, in a patient with SDS, the bone marrow does not make all of the types of white blood cells making the body more vulnerable to infection. The pancreas produces enzymes that help break down and use nutrients from food. SDS results in the pancreas not producing enough of these enzymes, which makes it hard to digest food and absorb nutrients. SDS causes problems with bone formation and growth, mainly in the hips and knees. Patients with SDS also display a deficiency in vitamins A, D, E, and K.

SDS is inherited in an autosomal recessive pattern. Each parent