SDS in Italy


There are 148 known cases of SDS in Italy (82 male, 66 female).


Geographical distribution

Geographical distribution

Percentage distribution by age and sex

Percentage distribution by age and sex

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)