Shwachman-Diamond syndrome

Disease Overview

Shwachman-Diamond syndrome (SDS) affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. Symptoms include the inability to digest food due to missing digestive enzymes, low muscle tone, and anemia. Other symptoms include skeletal findings and intellectual disability. Children with SDS may have feeding difficulties, slow growth, and frequent infections. People with SDS are at increased risk for blood cancers. Shwachman-Diamond syndrome can be caused by the SBDS, DNAJC21, EFL1, or SRP54 gene not working correctly. It can be inherited in either an autosomal recessive or autosomal dominant pattern. SDS is diagnosed is based on symptoms, blood tests, and genetic testing. Treatment may include enzyme and vitamin supplements, blood transfusion, granulocyte-colony stimulating factor (G-CSF), and hematopoietic stem cell transplantation.[8307][15599][15600]

Synonyms

• SDS
• Pancreatic insufficiency and bone marrow dysfunction
• Shwachman-Bodian syndrome
• Lipomatosis of pancreas, congenital
• Congenital lipomatosis of pancreas