The Shwachman-Diamond syndrome (SDS) or Shwachman-Bodian-Diamond syndrome (SBDS) is a rare autosomal recessive disorder characterised by 1 :
- exocrine pancreatic insufficiency
- metaphyseal chondroplasia
- bone marrow hypoplasia (cyclic neutropenia)
Patients with Shwachman-Diamond syndrome (SDS) typically present with diarrhoea, short stature, weight loss, and dry skin (eczema).
- shortened extremities
- cup deformity of ribs
Hyperechoic pancreas due to extreme pancreatic lipomatosis, usually with preservation of pancreatic size.
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