Shwachman-Diamond syndrome (SDS) or Shwachman-Bodian-Diamond syndrome (SBDS) is a rare autosomal recessive disorder characterized by 1 :
- exocrine pancreatic insufficiency
- metaphyseal chondrodysplasia
- bone marrow hypoplasia (cyclic neutropenia)
Shwachman-Diamond syndrome is a rare disorder with an incidence of 1 in 76,000 5.
Patients with Shwachman-Diamond syndrome may present with features of pancreatic insufficiency (e.g. diarrhea, weight loss) or other physical manifestations, e.g. short stature, and dry skin (eczema). Presentation is often in childhood, although it may be at any time in life. Shwachman-Diamond syndrome is the second commonest cause of pancreatic insufficiency in children after cystic fibrosis.
Skeletal features mostly relate to metaphyseal chondrodysplasia:
- shortened extremities
- cup deformity of ribs
Hyperechoic pancreas due to extreme pancreatic lipomatosis, usually with preservation of pancreatic size.
- cystic fibrosis: the pancreas is usually also smaller than normal
- pancreatic lipomatosis: without an accompanying syndrome
History and etymology
The entity was discovered by Martin Bodian (1912-1994), a British ophthalmologist, in 1964 3. In the same year, it was also described by Harry Shwachman (1910-1986), an American physician, and his colleagues 4. Identification of the genetic locus on chromosome 7 in 2001 5 and mutations of the SBDS gene itself in 2003 6 are further noteworthy milestones in the understanding of this entity.
- 1. Berrocal T, Prieto C, Pastor I et-al. Sonography of pancreatic disease in infants and children. Radiographics. 1995;15 (2): 301-13. Radiographics (abstract) - Pubmed citation
- 2. Mortelé KJ, Rocha TC, Streeter JL et-al. Multimodality imaging of pancreatic and biliary congenital anomalies. Radiographics. 26 (3): 715-31. doi:10.1148/rg.263055164 - Pubmed citation
- 3. BODIAN M, SHELDON W, LIGHTWOOD R. CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS. Acta Paediatr. 1996;53: 282-93. Pubmed citation
- 4. SHWACHMAN H, DIAMOND LK, OSKI FA et-al. THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION. J. Pediatr. 1996;65: 645-63. Pubmed citation
- 5. Goobie S, Popovic M, Morrison J et-al. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am. J. Hum. Genet. 2001;68 (4): 1048-54. doi:10.1086/319505 - Free text at pubmed - Pubmed citation
- 6. Boocock GR, Morrison JA, Popovic M et-al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat. Genet. 2002;33 (1): 97-101. doi:10.1038/ng1062 - Pubmed citation