British and Irish Network of
Congenital Anomaly Researchers

To mark Rare Disease Day on February 28, the Congenital Anomaly Register & Information Service for Wales (CARIS) has posted an updated table on genetic and syndromic rare diseases in Wales on its website.  The table give details of numbers reported, the prevalence and the birth ratio of these conditions.  A wide range of diseases are included in this table from the relatively common such as neurofibromatosis and cystic fibrosis to some rare in-born errors of metabolism and other rare syndromes.

The Welsh Government recently launched the Welsh Implementation Plan for Rare Diseases.  In accordance with the plan the aim of the table is to help raise awareness of rare diseases in Wales by providing birth prevalence figures for a range of rare conditions.  This data helps to fill the gap in robust epidemiological data available for rare diseases.  It is hoped this data will be of use to a wide range of health professionals.