Cathy Boyle wrote:
> Does anyone have a good web site for seeking information on human
> malformations?

Cathy - and other interested medlibbers -

Not yet, but soon maybe! (for a price) Read this announcement from
Oxford University Press Electronic Publishing Division at:

"In Summer 1998 we will be launching a World Wide Web service for the
London Dysmorphology Database and the London Neurogenetics Database.
This service will be offered free until the end of December 1998 to
anyone who has already purchased the CD-ROMs or to anyone who purchases
them during 1998."

The London Dysmorphology Database (LDDB)(about US$600) is a computer
database of "over 3000 non-chromosomal, multiple congenital anomaly
syndromes that can be used both as an aid to diagnosis for the clinician
and as a reference source". The London Neurology Database (LNDB) is a
database of genetic neurological disorders based on the same data
structure and software as the LDDB. The databases are available for PC
compatible microcomputers from Oxford University Press. A CD-Rom with
pictures of syndromes can be purchased as a companion piece.

POSSUM is a another software tool designed to help clinicians diagnose
malformation syndromes in their patients. A flexible search engine lets
the physician specify the traits exhibited by a patient and POSSUM
provides a list of possible syndromes--including comments, citations,
relevant pictures, sound and video(30,000 on a videodisk). Each syndrome
is described by a set of radiological or clinical traits drawn from the
literature. It's fairly pricey ($3500 to new subscribers) but truly an
elegant diagnostic resource.
Read more about it at or  They have not announced
any plans to make it available on the WWW.

Online Mendelian Inheritance in Man (OMIM) is frequently used this way
but of course the vocabulary is not controlled, it is not designed for
this use, and results are likely to be unwieldy and not definitive.

MEDLINE of course can also be used this way, with your coaching - I'll
be talking about use of these resources for malformation syndromes in my
course "Clinical Genetics for Medical Librarians" at MLA.

Another option is for the physician to submit the patient features to
the Dysmorphology Discussion Board at Registration is required and
access to patient files is password-protected. The editors "will decide
whether a case is displayed, based on the quality of the clinical
description and work-up and the distinctiveness of the phenotype".

Coming at it from the other direction, one can find a list of features
associated with known syndromes at  Not what your guy is
seeking, however.

That's about it. I've used each of these resources. If you have
questions you can call me Monday morning (8-12 MDT) at 406-444-7534. If
you've found other useful resources, please let me know!  Thanks.

Suzy Holt MLS, AHIP
Medical Information Consultant
[log in to unmask]
576 Third Street
Helena, MT 59601

Cathy Boyle wrote:
> Does anyone have a good web site for seeking information on human
> malformations?  I've used the search engines and come up with a few but
> what the physician is looking for is a site where he can input signs or
> symptoms and get possible diagnoses as to what the abnormality might be.
> Thank you.
> Cathy Boyle
> St. Agnes Hospital Library
> 430 E. Division St.
> Fond du Lac, WI
> 54935
> [log in to unmask]