Shwachman Diamond Syndrome (SDS) is a rare congenital disorder characterized by exocrine pancreatic insufficiency and neutropenia.
Synonyms: Shwachman-Bodian-Diamond Syndrome (SBDS) & Oski-Khaw syndrome
ICD-10:D61.0
Etiology & pathogenesis:
- Inherited in an autosomal recessive manner.
- Mutations in SBDS gene located on chromosome 7 ( gene locus 7q11) → abnormal SBDS protein → important for the stability of the mitotic spindle during cell division and for the assembly of the ribosomal subunits (ribosomal biogenesis)
Epidemiology:
- Incidence: about 1 / 75,000 per year.
- Prevalence: 1-9 / 1 000 000
- Age of onset: Antenatal, Neonatal, Infancy, Childhood
- 2nd MC cause of exocrine pancreatic insufficiency (Cystic fibrosis being the 1st)
Presentation:

Exocrine pancreatic insufficiency (due to the lack of acinar cells)	Chronic steatorrhea due to malabsorption & may improve over time in some patients
Hematological manifestations	Intermittent or constant neutropenia → ↑ risk of recurrent infections Bone marrow failure can develop in the course → aplastic anemia and pancytopenia Transition to myelodysplastic syndrome or acute myeloid leukemia is possible.
Other manifestations	Growth retardation: found in over 50% of patients & unrelated to nutritional status Skeletal dysplasia: metaphyseal dysostosis, thoracic deformity & costochondral hypertrophy Mild hepatic impairment Ichthyosis Psychomotor retardation

Dx
- Exocrine pancreatic insufficiency: ↓ fecal elastase.
  - Ddx: sweat test to rule out cystic fibrosis.
- CBC: neutropenia +/- anemia or pancytopenia in bone marrow failure.
- Confirmation: molecular genetic Dx.
Therapy
- Exocrine pancreatic insufficiency: supplementing the missing digestive enzymes.
- Neutropenia: G-CSF & stem cell transplant in some cases.
- Severe skeletal abnormalities: surgical intervention.

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Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment. Dror Y, Freedman MH. Blood. 1999 Nov 1;94(9):3048-54.
Shwachman-Diamond syndrome with development of bone formation defects during prenatal life.
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Association of isochromosome (7)(q10) in Shwachman-Diamond syndrome with the severity of cytopenia. Shimosato Y, Tanoshima R, Tsujimoto SI, Takeuchi M, Sasaki K, Kajiwara R, Goto H, Nagai J, Yanagimachi MD, Ito S, Yokota S. Clin Case Rep. 2017 Dec 5;6(1):125-128. doi: 10.1002/ccr3.1249. eCollection 2018 Jan.