Who we are

Coordinating Committee

Dr Marco Cipolli (Director)
Prof. Valentino Bezzerri
Dr Simone Cesaro
Prof. Cesare Danesino
Dr Sandra Perobelli
Prof. Roberto Valli

Data Manager

Emily Pintani

Contact details

Tel: 045 812 3561
Fax: 045 812 2042
e-mail: info@registroitalianosds.org

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)