Shwachman-Diamond Syndrome

---

Description

Shwachman-Diamond Syndrome (SDS) is a rare, inherited disorder that primarily affects the bone marrow, pancreas, and skeletal system. This syndrome can lead to a variety of health challenges, including bone marrow failure, pancreatic insufficiency, and skeletal abnormalities. While SDS is a lifelong condition, early diagnosis and proper management can significantly improve quality of life for individuals affected by this disorder.

Genes Involved

The most common genetic mutation associated with SDS is a mutation in the SBDS gene. This gene provides instructions for making a protein involved in ribosome function, which is essential for protein synthesis in cells. Mutations in the SBDS gene can disrupt this process, leading to the development of SDS.

Recognizing the Signs and Symptoms

Recognizing the signs and symptoms of SDS is crucial for early diagnosis and intervention. Some common symptoms include:

• Bone Marrow Failure: This can lead to anemia (low red blood cell count), neutropenia (low white blood cell count), and thrombocytopenia (low platelet count). This can result in frequent infections, easy bruising, and fatigue.
• Pancreatic Insufficiency: The pancreas may not produce enough digestive enzymes, leading to malabsorption of nutrients, diarrhea, and failure to thrive.
• Skeletal Abnormalities: These may include short stature, bone deformities, and delayed bone growth.
• Other Symptoms: Other symptoms may include recurrent infections, delayed growth and development, and liver dysfunction.

The severity of symptoms can vary greatly among individuals with SDS.

Causes

Shwachman-Diamond Syndrome is caused by genetic mutations, primarily in the SBDS gene. These mutations are inherited in an autosomal recessive pattern, meaning both parents must carry the gene mutation for their child to have SDS.

If both parents carry the gene mutation, each of their children has a 25% chance of inheriting the disorder.

Inheritance/recurrence risk

SDS is inherited in an autosomal recessive pattern. This means that both parents must carry the gene mutation for their child to have SDS. If both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit the disorder.

Siblings of individuals with SDS have a 50% chance of being carriers of the gene mutation.