What are the symptoms of Shwachman-Diamond syndrome?

chronic diarrhea.
frequent infections due to low white blood cell counts.
poor growth.
pale skin.
lack of energy or tiring easily (fatigue)
bruising, or a red or purple pinpoint rash on the face or body.
bleeding (for example bleeding gums, nosebleeds, blood in the stool)

Is there a cure for Shwachman-Diamond syndrome?

Although there is not a cure for Shwachman-Diamond syndrome at this time, treatment can help manage a child’s symptoms. Common treatments include: Pancreatic enzyme supplements. Vitamin supplements.

What is Shwachman-Diamond syndrome?

Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and bones. The major function of bone marrow is to produce new blood cells.

Is exocrine pancreatic insufficiency fatal?

The good news is that the condition is treatable. “One [treatment] option is pancreatic enzyme replacement therapy, which aids in digestion, helps improve malabsorption and vitamin deficiencies, and stimulates weight gain,” Gress says.

What is Riley Shwachman syndrome?

Shwachman syndrome is a rare genetic disorder characterized by insufficient absorption (malabsorption) of necessary nutrients due to abnormal development of the pancreas (pancreatic insufficiency); impaired functioning of the bone marrow, resulting in a reduced number of certain blood cells; abnormal bone changes that …

What are the symptoms of Pearson syndrome?

What is pearson syndrome?

Pale skin and fatigue due to underproduction of red blood cells (anemia)
Frequent infections due to underproduction of white blood cells (neutropenia)
Bleeding due to underproduction of blood platelets (thrombocytopenia)
Frequent diarrhea.
Stomach pain.