Congenital diarrhoeal disorders (CDDs) represent an evolving web of rare chronic enteropathies, with a typical onset early in life. The number of well-characterized disorders attributed to CDDs has gradually increased over the past few years and this Review highlights new CDD entities and advances understanding of functionally related genes that are opening new diagnostic and therapeutic perspectives.
- Roberto Berni Canani
- Giuseppe Castaldo
- Olivier Goulet