The Winter-Baraitser Dysmorphology Database (WBDD)
The Winter-Baraitser Dysmorphology Database currently contains information on over 3400 dysmorphic, multiple congenital anomaly and mental retardation syndromes. It includes single gene disorders, sporadic conditions, and those caused by environmental agents.
Although WBDD mainly contains information about non-chromosomal multiple congenital anomaly syndromes, it also includes information about distinctive microdeletion syndromes and those resulting from uniparental disomy. WBDD contains over 35000 fully searchable references, linked to the appropriate syndromes.
The Baraitser-Winter Neurogenetics Database (BWND)
The Baraitser-Winter Neurogenetics Database currently contains information on over 3250 syndromes involving the central and peripheral nervous system seen in adults and children. Like the WBDD, it contains information on single gene disorders, sporadic conditions, and those caused by some environmental agents. Many conditions seen by neurologists have only an occasional genetic contribution - such as motor neurone disease - but these have been included. In BWND, search facilities are enhanced by the ability to use age at onset of neurological features, neurological and other clinical features, neuroradiological findings, changes seen on electrophysiological investigation, abnormal biochemistry, and neuropathological findings. BWND contains over 38000 fully searchable references, linked to the appropriate syndromes.
The Photo Library (WBDD and BWND)
Now integrated into WBDD and BWND, the Photo Library is a superb collection of over 12500 photographs that show the main dysmorphic features of the syndrome and other relevant images, such as skeletal radiographs, hair microscopy, etc. In the case of neurogenetic syndromes, there are CT and MRI images showing their characteristic neuroradiological features, examples of EEG changes or the changes observed on other key electrophysiological investigations and, where relevant, pictures of the characteristic neuropathology, including nerve and muscle biopsy.
The London Ophthalmic Genetics Database (GENEEYE)
The latest addition to the LMD series, GENEEYE is a comprehensive database of genetic ophthalmic conditions. Ophthalmological features have been considerably extended and all the syndromes from WBDD and BWND with an eye feature extracted and reclassified according to their features. To this has been added many single congenital anomalies both genetic and sporadic, including all the corneal dystrophies, macular dystrophies, the scores of different rod-cone dystrophies and much else. GENEEYE contains over 29000 fully searchable references, linked to the appropriate syndromes.
There are many ways to use the LMD series in clinical practice. The databases act as both an aid to diagnosis and as a reference source for the experienced clinician who is able to assess the important features of a case.
Using a custom-designed Windows software interface, the program allows the user to access and display data in a variety of ways. Rapid and flexible search facilities can be used to interrogate the data, which is regularly updated and supplied to users on a subscription basis. Updating has been continuous since the mid-1980s, using extensive reference research covering hundreds of journals and online resources. New syndromes are added, previously reported conditions are refined, new case reports and the latest genetic information added.
All databases have a detailed record for each syndrome with the following information:
- Syndrome name and commonly used synonyms
- Chromosomal location (if known)
- McKusick/OMIM number (linking directly to OMIM)
- Gene symbol
- Inheritance pattern
- Detailed abstract summarising the literature and findings to date
- Comprehensive feature list
- Reference list
- Photographs from the literature and/or the authors' own collections where available.
The Photo Library is integrated with each database, offering over 12500 images that illustrate syndrome features for the Dysmorphology and Neurogenetics databases. For GENEEYE, over 4500 images are provided as an integral part of the data set. The abstracts provide a compact but informative and up to date review of the syndrome.
Using the LMD software you can:
- Browse syndromes and references alphabetically.
- Display individual syndrome records containing abstracts, features, references, and photographs (if available), chromosomal location, inheritance pattern and McKusick number.
- Search for syndromes using user selected combination of clinical features and/or any of the above data types.
- Search references by combinations of author, title, journal, syndrome and date of publication.
- Import your own patient photographs.
- Create collections of photographs of particular interest - images either from the Photo Library or your own sources.
- Create lists of selected syndromes or references for further study.
- Print syndromes and references or save them to a separate file.
Click on each link below to see a screen snapshot of the database.
- Syndrome list
A browsable and fully searchable list of syndromes listed alphabetically. Type any sequence of letters in
the ‘Go To’ box to jump directly to a particular syndrome.Click on a syndrome for its details.
- Abstracty and syndrome details
A detailed abstract and genetic information with clinical features, references and image thumbnails all easily accessible from a tabbed menu.
- Feature list
Full list of all clinical features associated with a syndrome. Click on a feature to obtain a description and a link to an image illustrating the feature.
- Feature search function
Drag and drop one or more features from the feature tree to the search criteria boxes to provide a differential diagnosis. Use combinations of multiple features or exclude specific features to refine a search.
- Reference list
A browsable, fully searchable list of references, listed alphabetically by first author, showing the full citation and linked syndrome(s).
- Image thumbnails
A thumbnail set showing available images for any particular syndrome. Click on the thumbnail to bring up a large image and description.
- Image display and caption
A resizable window including the image, a description and relevant reference. Jump to the next/previous image using arrows.
- Reference search screen
Search through references using a combination of multiple criteria. Searches can be saved or printed out.
Winner (1995) in the electronic category, Medical Writer's Group of the Society of Authors. Award given for LDDB, LNDB and Photo library.
Winner (1997) British Medical Association, Author award (electronic category) for LDDB, LNDB and Photo Library.
"The clinical genetics community owes a huge debt of gratitude to the two authors of these Databases. It is difficult to envisage the practice of clinical dysmorphology and neurogenetics without access to the LDDB, LNDB, and Dysmorphology Photo Library. For most clinical geneticists faced with an unknown dysmorphic or neurogenetic syndrome, these databases are likely to be the first port of call. A thorough search of the databases will often suggest a diagnosis for such patients. It is this reviewer's firm belief that no clinical genetics or neurology department can afford to be without these databases. Perinatal pathologists and paediatricians will also benefit enormously from access to them." Mohnish Suri, Journal of Medical Genetics, 2002.
"In summary, a very practical and useful set of databases with a good many great new features. This will remain an essential tool in every clinical genetics service" "J-P Fryns and TJL de Ravel, Human Genetics, 2002.
"Metabolic disorders services, neurology clinics, and genetics centers, especially those involved in training programs, should find the databases to be a useful adjunct to standard reference works. Dr. Baraitser and Prof. Winter are to be commended for contributing a valuable resource to the literature of dysmorphology and neurogenetics” Harold N., Bass American Journal of Human Genetics, 2002.
Both authors have written over 300 papers on syndrome recognition and gene identification and several books including:
- Baraitser M. The Genetics of Neurological Disorders, Oxford University Press (3 editions).
- Baraitser, M., Winter, R.M. An Atlas of Clinical Genetics, Wolfe Medical Publishers (1983).
- Winter, R.M., Knowles, S.N., Bieber, F.R., Baraitser, M: The Malformed Fetus and Stillborn: A Diagnostic Approach. John Wiley (1988).
- Winter, R.M., Baraitser, M.: Multiple Congenital Anomaly Syndromes: A Catalogue of Human Malformation Syndromes, Chapman and Hall, London (1991).
- Winter, R.M., Baraitser, M. Multiple Congenital Anomaly Syndromes: A Catalogue of Human Malformation Syndromes - First Supplement, Chapman and Hall, London (1993).
- Donnai D, Winter R.M. (eds.) Congenital Malformation Syndromes, Chapman and Hall, London (1995).
- Baraitser M, Winter R.M. Color Atlas of Congenital Malformation Syndromes, Mosby-Wolfe, London (1996).
Minimum system requirements for the programs are:
PC with Pentium processor and CD-ROM drive, 32 MB RAM, 150 MB free hard disk space, VGA monitor with 800 x 600 screen resolution and, Internet Explorer 4.0 or better. The software is compatible with all versions of Windows from Windows 95 onwards (including Windows XP). Currently, LMD databases are for Windows only.