Shwachman-Bodian-Diamond syndrome

Pathology

• pancreatic insufficiency resulting in malabsorption
• neutropenia with defective neutrophil chemotaxis
• skeletal abnormalities
• aplastic anemia

Genetics

• autosomal recessive
• mutations in the SBDS gene

Clinical manifestations

• sinusitis
• bronchitis
• short stature

Laboratory

• complete blood count: anemia
• reticulocyte count low (aplastic anemia)
• bone marrow biopsy

Radiology

• metaphyseal flaring of long bones

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• Shwachman-Bodian-Diamond syndrome protein; ribosome maturation protein SBDS (SBDS)

Database

• OMIM: https://mirror.omim.org/entry/260400