Syndromes


15 April 2008 Introduction
The library has a good collection of reference books on syndromes but, if you cannot find information in these books, then you should refer to the web and organisational resources listed here.

The BMA library information factsheet on patient groups and patient information may also contain useful resources.
Go to the factsheet on patient groups and patient information

Syndromes have different types
  • aetiology (Fish tank syndrome; shaken baby syndrome)
  • investigator's first patient (Hartnup syndrome)
  • clinical features (acquired immune deficiency syndrome)
  • fictitious person (Pickwickian syndrome)
  • place at which it first appeared (Lyme syndrome)
  • commonplace acronyms (mitochondrial encephalopathy (ME) or lactic acidosis (LA))
Problems in the use of eponyms and syndromes include:
  • ambiguity (not a scientific description)
  • changing values and fashions (Mongolism, Down syndrome, Trisomy 21)
  • country variations (US Plummer-Vinson syndrome or UK Patterson-Kelly syndrome)
  • naming inconsistencies (associated name is often not the first to describe it.)
The main benefits however is that the use of a personal name often makes the name easier to remember as it reflects interest in the biographical and human dimension of medicine.

Print resources
Directories of syndromes and eponyms are kept at Quick Ref 9. Specialist books are classified with other books on that subject.

Enoch MD, Ball H. Uncommon psychiatric syndromes 4th ed. Arnold, 2001
BMA location: WM 140

Firkin BG, Whitworth JA. Dictionary of medical eponyms 2nd ed. Parthenon, 1996
BMA location: Quick Ref 9
Biographical summaries; pictures

Gilbert P. The A-Z book of syndromes and inherited disorders 3rd ed. Stanley Thornes, 2000
BMA location: Quick Ref 9
90 descriptions of common syndromes; clear sections (including one on the future); patient groups information.

Magalini SI et al. Dictionary of medical syndromes 4th ed. Lippincott-Raven, 1997
BMA location: Quick Ref 9
Current; includes synonyms; clear description of signs, pathology and prognosis; bibliographical references to original paper and recent articles

McCusick VA. Mendelian inheritance in man : a catalog of human genes and genetic disorders 12th ed. Johns Hopkins Univ P, 1998
BMA location: QZ 50
Catalogue of human genes and genetic disorders which contains textual information, pictures, and reference information.
Go to the more current web version here

NORD guide to rare disorders. Lippincott Williams & Wilkins 2003
BMA location: Q REF 9

Database resources
Current information on syndromes can be found in Medline. There are many other specialist databases which can be used to locate bibliographical information. The MEDLINE Plus helpdesk can advise on databases and conduct searches for members.
Read more about our search services here

Web resources
Whonamedit.com
A biographical dictionary of medical eponyms which surveys of all medical phenomena named for a person, with a biography of that person. It contains over 7 000 entries and can be searched by eponym, country, category or by female subjects:
Go to this database here http://www.whonamedit.com/index.cfm

National Organization for Rare Disorders
Federation of US voluntary health organisations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. It seeks to identify, treat and cure rare disorders through programs of education, advocacy, research, and service. It includes an index of reports on rare diseases and a database of articles
Go to this database here http://www.rarediseases.org/search/rdblist.html

Other organisations and libraries
Contact a Family
209-211 City Road
London
EC1V 1JN
tel: 020 7608 8700
020 7608 8702 (Minicom)
0808 808 3555 (Freephone, 10am-4pm, Mon-Fri)
fax: 020 7608 8701
email: info@cafamily.org.uk
Go to this database here http://www.cafamily.org.uk

NHS Direct Online
UK gateway to high quality health information. NHS Direct Health Encyclopaedia provides information on illnesses, conditions, tests and treatments.
Go to this database here http://www.nhsdirect.nhs.uk/articles/alphaindex.aspx

© British Medical Association 2008

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