How to take part

To ENROL in RI-SDS, all you need to do is follow the procedure outlined below:

1. Express informed consent
  • Carefully read the information sheet
  • Sign the informed consent form
  • Send the completed form to:

             Ms Emily Pintani
             Centro Regionale Veneto SDS c/o Centro Fibrosi Cistica
             Azienda Ospedaliera Universitaria Integrata di Verona
             P.le Stefani 1, 37126 Verona
2. Send your individual data
  • Fill in the socio-biographical data and details of diagnosis forms
  • Choose whether to submit these two forms by:
    - post, to the address indicated above
    - fax, to the following number (++39) 045 812 2042, att. Emily Pintani
    - e-mail:

To UPDATE individual data:

The Registry requires an annual update of your data, which can be returned by post, fax or e-mail as indicated above.

What is Shwachman-Diamond Syndrome (SDS)?

SDS is a rare disease whose frequency is estimated at about 1 in 100,000-150,000 live births.
The basic clinical features are pancreatic insufficiency at birth, resulting in slow growth, with haematological and bone disorders.
For more detailed information, see the following illustrative booklet.

Topics covered in the booklet:
1. Introduction
2. Main features
3. Other associated anomalies
4. The genetics of SDS
5. Treatment
Copertina dell'opuscolo informativo: bolle colorate su su fondo bianco

International guidelines for diagnosis of SDS (pdf)