Shwachman-Diamond syndrome

The Shwachman-Diamond syndrome (SDS) or Shwachman-Bodian-Diamond syndrome (SBDS) is a rare autosomal recessive disorder characterized by 1 :

  • exocrine pancreatic insufficiency
  • metaphyseal chondroplasia
  • bone marrow hypoplasia (cyclic neutropenia)

Patients with Shwachman-Diamond syndrome (SDS) typically present with diarrhea, 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.

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.

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Article information

rID: 4916
Section: Syndromes
Synonyms or Alternate Spellings:
  • Shwachman-Bodian-Diamond syndrome
  • Shwachman Diamond syndrome
  • Shwachman-Bodian-Diamond syndrome (SBDS)
  • Congenital lipomatosis of pancreas
  • Shwachman-Bodian syndrome
  • Shwachman-Diamond-Oski syndrome

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Cases and figures

  • Case 1
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  • Case 2: with pancreatic lipomatosis
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