How to take part

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

1. Express consent

• Carefully read the information sheet
• Sign the 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: info@registroitalianosds.org
  

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

International guidelines for diagnosis of SDS (pdf)