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Shwachman-Diamond Syndrome

The Verona CF Center is the Regional Reference Center for Shwachman-Diamond Syndrome (Veneto Region Resolution no. 2707 of 29 December 2014).

Shwachman-Diamond Syndrome (SDS) is a rare disease, with an estimated frequency of 1/100,000-150,000 live births. The basic clinical features are pancreatic insufficiency at birth and poor growth as a result, together with haematological and bone alterations.
The discovery of the gene (SBDS) has enabled confirmation of diagnosis by DNA analysis, though not in all cases.



Whole-person care of SDS patients, with a multispecialty outpatient clinic: this provides consultations on all aspects of the syndrome, as well as periodic admissions for in-depth examination of critical features.
Since 2011, the Verona Cystic Fibrosis Center has managed the Italian SDS Registry.


Research programmes

  • Role of inflammatory cytokines in SDS
  • Survival curves of patients with SDS
  • Gene expression in SDS patients’ mesenchymal stem cells and its clinical implications
  • Lymphoblastoid cells as a cellular model in SDS
  • Genome sequencing to study the clinical variability, course and prognosis of SDS



  • Hospital for Sick Children (Toronto)
  • Department of Engineering for Innovation in Medicine – Innovative Biomedicine Section, University of Verona (Director: Prof. Giuseppe Lippi)


Doctor in Charge
Dr Anna Pegoraro

Dr Lucia Martini

Times and Contact Details

Mon-Fri, by appointment

Outpatient clinic 045 812 2369


Logo SDS - Centro Regionale Veneto