Shwachman-Diamond syndrome

Definition

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

Also known as pancreatic insufficiency and bone marrow dysfunction, Schwachman-Diamond syndrome, Schwachmann-Diamond syndrome, SDS, Shwachman Diamond Syndrome, Shwachman syndrome, Shwachman-Bodian-Diamond syndrome, Shwachman-Diamond syndrome — per MONDO

Also identified as

• DOID 0060479 per MONDO
• DOID 0080023 per MONDO
• MESH C537330 per MONDO
• NCIT C61235 per MONDO
• Orphanet 811 per MONDO
• SCTID 89454001 per MONDO
• UMLS C0272170 per MONDO

Affected Organs