Shwachman-Diamond syndrome

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

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.

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.

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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