Useful information about rare inherited disordersBMJ 2003; 326 doi: https://doi.org/10.1136/bmj.326.7390.612 (Published 22 March 2003) Cite this as: BMJ 2003;326:612
Many resources are available for individually rare but collectively common disorders
- Michael A Patton, professor
- Department of Medical Genetics, St George's Hospital Medical School, London SW17 ORE
Rare disorders from Aarskog syndrome to the Zellweger syndrome do not appear in standard textbooks. Although individually rare, such inherited disorders number in thousands when considered together and form a significant proportion of disease. A patient with one of these disorders is likely to be seen in general practice from time to time. Fortunately for practitioners, several sources for reference now exist that could help in the management of patients and their families.
The charitable sector often provides a good source of information for both patients and professionals. The charity Contact a Family (www.cafamily.org.uk/) has pioneered this with its first directory, published in 1991.1 Hard copies on paper or on CD are available from the charity. This …