Shwachman-Diamond syndrome

Shwachman-Diamond syndrome is a rare multisystemic condition that affects multiple organs in the body. People with this condition often have mild chronic neutropenia, meaning they have a low number of a type of white blood cell, and they may also experience pancreatic exocrine insufficiency. This pancreatic problem can lead to issues with digesting food, often seen as fatty stools (steatorrhea) and poor growth. In addition, people with Shwachman-Diamond syndrome can have skeletal dysplasia, which leads to short stature. There is also an increased risk of developing bone marrow problems such as aplasia (where the bone marrow does not produce enough blood cells) or to progress to leukemia. This summary highlights the key features of the condition as described by trusted sources.

Common symptoms of Shwachman-Diamond syndrome include persistent low neutrophil levels, which can affect the body’s ability to fight infections. People may experience digestive difficulties due to the pancreas not working well, which can lead to steatorrhea and growth failure. Additionally, skeletal problems, such as short stature and abnormal bone development, have been observed in people with this condition, along with a higher risk of bone marrow issues.

Information about causes, genetics, and risk factors is currently limited for this condition.

Information about treatment options and management approaches is currently limited for this condition.

Information about outlook and quality of life considerations is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.