Rare, autosomal recessive syndrome affecting multiple body systems. Characterized by neutropenia, skeletal dysplasia, bone marrow abnormalities, and pancreatic (exocrine) insufficiency. Most often caused by mutations in SBDS gene. Onset is usually in infancy or childhood, with recurring respiratory infections not uncommon. May manifest with failure to thrive, chronic steatorrhea, growth retardation, and short stature. Other possible findings are anemia and thrombocytopenia. Bone involvement may result in delayed bone age, osteopenia, and pectus carinatum. Global apraxia, generalized weakness, and hypotonia have been noted. Patients are susceptible to malnutrition and malabsorption disorders and are at greater risk of developing leukemia.
Treatment is multisystem, variable, and targets primarily life-threatening conditions. Pancreatic enzyme supplementation, antibiotics, hematopoietic stem-cell transplant (bone marrow transplant), corrective skeletal surgery, and granulocyte colony-stimulating factor therapy may be considered.