Database of Rare Diseases Reported in Sri Lanka

The Rare Disease Forum of the Sri Lanka College of Paediatricians is maintaining a data base of all rare diseases reported in Sri Lanka. We hope that this will facilitate the diagnosis, reporting and management of Rare Diseases in Sri Lanka.

The link to the database is: click here

Please send details of all case reports of rare diseases that you report in the future to rarediseases.slcp@gmail.com to be included in this database.

Rare Disease Forum of the SLCP was inaugurated in 2017 by a group of paediatricians interested on rare diseases. Its membership opens to all members of the SLCP and includes specialists from several other disciplines. The main aims of this forum are to aid paediatricians to improve clinical diagnosis, investigations, management and reporting of rare diseases and promotes research related to rare diseases.

Rare Diseases are defined as conditions that affect fewer than 1 in 2000 of the population excluding infections. There are about 7,000 identified rare diseases and most of these disorders have a genetic background. The accurate diagnosis of most of these diseases require sophisticated laboratory investigations therefore, pose a great challenge to paediatricians in low- and middle income countries. To overcome these limitations, the rare disease forum of the SLCP attempts to develop international collaborations with high-income countries, obtain government funding to expensive investigations and to liaise with drug regulatory authorities to make medicines available for children with rare diseases.