Shwachman-Diamond syndrome

Last revised by Joshua Kogan on 24 May 2024

Shwachman-Diamond syndrome, also known as Shwachman-Bodian-Diamond syndrome, 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 later diagnosis is possible. Shwachman-Diamond syndrome is the second most common cause of pancreatic insufficiency in pediatrics after cystic fibrosis.

Shwachman-Diamond syndrome is usually caused by a mutation in the SBDS gene, which is located on chromosome 7, although other genes have been implicated 5-7. The condition is inherited in an autosomal recessive manner 6.

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.

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