Shwachman Diamond Syndrome (SDS) was first documented in 1964.  SDS is a ribosomopathy and is a multi-system disorder presenting with skeletal changes, neutropenia, and an exocrine pancreatic insufficiency.  However, the clinical phenotype is expressed to different degrees and guidance on the key features are set out below.



Estimates for the incidence of SDS vary from 1 in 75,000 to 1 in 350,000 of live births.

Features expressed in most patients:

  • Exocrine pancreatic insufficiency, particularly in younger children, and evidence of abnormal fat absorption,
  • Reduced levels of fat soluble vitamins,
  • Neutropenia,
  • Failure To Thrive, short stature,
  • Skeletal changes (shorter long bones with irregular/wider metaphyses, short ribs with cupping and widening at the costochondral junctions, osteopenia).

Other features expressed in some but not all patients:

  • Further cytopenias including thrombocytopenia,
  • Elevated liver enzymes (ALT, ALP), particularly in younger children,
  • Neurodevelopmental issues.

SDS patients may develop aplastic anaemia and have a higher risk of progressing to myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML). Patients who develop bone marrow failure or MDS/AML should be referred immediately to one of the specialist centres listed below for further management.


SDS is inherited in an autosomal recessive manner.

The Shwachman-Bodian-Diamond-Syndrome (“SDBS“) gene that causes the majority of identified cases was reported in 2002 and research continues to focus on discovering further genes in clinically diagnosed SDS patients that do not display biallelic mutations in the SDBS gene.


Paediatric referrals:

Dr Jutta Köglmeier
Consultant Paediatric Gastroenterologist
Great Ormond Street Hospital for Children
Great Ormond Street
London WC1N 3JH
Medical PA
Tel: 020 7405 9200
Extension 0114



[Link to Sally Kinsey]

Adult referrals:

Prof. Alan J. Warren

Contact: Phyllis Paterson, Clinical Nurse Specialist, Box 193, Haematology Department, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke’s Hospital, Hills Road, Cambridge, CB2 0QQ, UK

Tel:   Desk 01223 586771

Office and answerphone 01223 596279
Direct line 01223 245151 then Bleep 152 167

24 hour helpline 01223 274225


Full blood counts typically indicate neutrophil levels that are below the reference range, although absolute levels of neutrophils may vary over time and can occasionally be in the normal range. Less commonly, haemoglobin and platelet counts may also be reduced. Some SDS patients may also display elevated serum liver enzymes.

Exocrine pancreatic insufficiency may be established by assessing faecal elastase, age-adjusted serum trypsinogen and isoamylase.

SDS patients often display reduced fat soluble vitamin levels.  After cystic fibrosis (CF), SDS is the most common cause of exocrine pancreatic insufficiency and, if CF has been excluded, a referral to one of the specialist clinics below is recommended. Pancreatic function can improve in later childhood.

Mutational analysis of the SDBS gene is performed at St.Mary’s Hospital, Manchester:

Joanna Brock
Clinical Scientist
Genomic Diagnostics Laboratory
Manchester Centre for Genomic Medicine
Central Manchester University Hospitals NHS Foundation Trust
St Mary’s Hospital
Oxford Road, Manchester,

M13 9WL
Tel: +44 (0)161 701 4920
Fax: +44 (0)161 246 6606


The draft consensus guidelines contain greater detail on the clinical phenotype and propose a surveillance framework.

Draft Consensus Guidelines for diagnosis and treatment of Shwachman-Diamond Syndrome (Dror et al, 2011).  [LINK to PDF; PDF file to be supplied]

The Shwachman Diamond Canada website also sets out detailed information on the clinical phenotype, genetics and diagnostics for the SDS disorder.