Shwachman-Diamond syndrome

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 diarrhea, short stature, weight loss, and dry skin (eczema).

Hyperechoic pancreas due to extreme pancreatic lipomatosis, usually with preservation of pancreatic size.

The entity was discovered by Dr Martin Bodian (1912 -1994), a British ophthalmologist, in 1964 3. In the same year it was also described by Dr Harry Shwachman (1910 - 1986), an American physician, and his colleagues 4. Identification of the location 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
Synonyms or Alternate Spellings:
  • Shwachman Diamond syndrome

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Cases and figures

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    Case 1
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    Case 2: with pancreatic lipomatosis
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