Shwachman-Diamond Syndrome

Shwachman-Diamond syndrome is a rare genetic syndrome that causes pancreatic insufficiency and possible bone marrow failure. There might be many people waking around with this syndrome and they do not even know it. Right now it is thought that Shwachman-Diamond syndrome occurs in 1 out of 50,000 births. Since the symptoms are so similar to other diseases, such as cystic fibrosis, many children are misdiagnosed or passed off as being small. It is important for all parents to know the signs, symptoms, and facts of this syndrome.

Pancreatic insufficiency. Shwachman-Diamond syndrome is the second most common cause of pancreatic insufficiency, right behind Cystic Fibrosis. The difference between Cystic Fibrosis and Schwachman-Diamond is that in CF, the pancreatic ducts are blocked by mucus and the enzymes cannot make their way to the stomach. In a Shwachman-Diamond child, their pancreas does not produce enough digestive enzymes needed to break down food. This leads to malabsorption, foul-smelling, greasy stools, and poor weight gain. This symptom usually appears around 4 to 6 months of age. Until that point, a child's weight gain and stools might appear normal. Most Shwachman-Diamond children are in the 5^th percentile or lower for both height and weight. A few do make it to the 25^th percentile.

Bone marrow. A child with Shwachman-Diamond might not produce enough white blood cells needed to fight off infections. Due to this, many of these children are home schooled, or they miss a lot of regular school due to chronic infections. Their platelet counts might be low, and, if this is the case, the child will not be able to participate in contact sports due to the risk of internal bleeding. About 25% of people with Shwachman-Diamond will go on to develop leukemia or bone marrow failure. If this occurs, a bone marrow transplant will be needed. In order to detect possible leukemia or bone marrow failure, Shwachman-Diamond patients undergo frequent blood checks and yearly bone marrow biopsies.

Skeletal abnormalities. Many people with Shwachman-Diamond have skeletal abnormalities. Many will have a thickening of the rib cage or abnormalities of the growth plates. All Shwachman-Diamond children need to have extensive x-rays to see if their bones are affected.

Other. Other symptoms of Shwachman-Diamond include eczema, poorly developed teeth, abnormal liver enzymes, enlarged liver, larger than normal appetites due to the malabsorption of food, petechiae, and learning disorders.

The gene that causes Shwachman-Diamond was recently discovered, so a gene test can be ordered to confirm diagnosis. In 10% of cases, however, the mutations can not be found, and the clinical diagnosis will hold. The defect occurs on chromosome 7 and there are several different possible mutations. The parents of a Shwachman-Diamond child are carriers of the defective gene, but they do not necessarily have the syndrome. Parents can be tested to rule out the possibility. If a couple has one diagnosed child, they have a 25% chance of having another child with Shwachman-Diamond, a 50% chance the child will be a carrier, or a 25% chance that the child will be syndrome and carrier-free.