Shwachman–Bodian–Diamond syndrome

Shwachman–Bodian–Diamond syndrome (SBDS) is a rare genetic disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature. It is named after the three doctors who first described it: Dr. Harry Shwachman, Dr. Martin Bodian, and Dr. Louis K. Diamond.

Etiology

SBDS is caused by mutations in the SBDS gene, which is located on chromosome 7. The exact function of the SBDS gene is not fully understood, but it is believed to be involved in ribosome biogenesis and RNA processing. Mutations in this gene lead to a reduction in the amount of functional SBDS protein, which in turn disrupts normal cellular processes.

Clinical Features

The clinical features of SBDS can vary widely, but typically include:

• Exocrine Pancreatic Insufficiency: This leads to malabsorption of fat and protein, resulting in poor growth and failure to thrive.
• Bone Marrow Dysfunction: This can result in neutropenia, anemia, and an increased risk of myelodysplastic syndrome and acute myeloid leukemia.
• Skeletal Abnormalities: These can include metaphyseal dysostosis, rib cage abnormalities, and short stature.
• Other Features: Other features can include liver disease, cardiac defects, and cognitive impairment.

Diagnosis

Diagnosis of SBDS is based on clinical features, laboratory findings, and genetic testing. Genetic testing can identify mutations in the SBDS gene, confirming the diagnosis.

Treatment

There is currently no cure for SBDS. Treatment is supportive and focuses on managing the symptoms. This can include pancreatic enzyme replacement therapy, nutritional support, and regular monitoring for hematological complications.

Prognosis

The prognosis for individuals with SBDS can vary widely. Some individuals have a normal lifespan with few complications, while others may have severe disease and a shortened lifespan due to complications such as myelodysplastic syndrome or acute myeloid leukemia.

See Also

• Genetic disorder
• Exocrine pancreatic insufficiency
• Bone marrow dysfunction
• Skeletal abnormalities

NIH genetic and rare disease info

• NIH info on Shwachman–Bodian–Diamond syndrome

Shwachman–Bodian–Diamond syndrome is a rare disease.

Shwachman–Bodian–Diamond syndrome Resources
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