If you know the common name of a disorder, the simplest way to find it in the database is to click on the Clinical Information tab, then on the first letter for the name of the condition and scroll through the alphabetical list to the title. If the list does not contain the title you are looking for, it may be because it is known by another name. The search function can be used to search for alternate titles.
The Search for a Disorder function becomes most useful when confronted with a patient or family with unrecognized syndromal signs and symptoms. By entering the clinical features present, it may be possible to identify a condition not previously recognized. The more unique the clinical feature, the more informative the search results will be. For example, beginning with 'iris hypoplasia' will yield a much shorter list than using 'cataracts' or 'glaucoma' when multiple features are present. In general, the more clinical features entered into the search box the shorter will be the list of diagnostic possibilities with the final goal of arriving at a single diagnosis.
Initial entry of a term displays a maximum of 10 conditions and it may be necessary to click on "More" to get the complete listing. For example, enter 'ectopia lentis' and a list of 10 conditions with that feature appears. Click on "More" and all 17 conditions in which dislocated lenses occur will be listed. The search function is progressive so if the original entry is expanded to 'ectopia lentis arachnodactyly' only Marfan syndrome and homocystinuria are listed. Using 'ectopia lentis arachnodactyly scoliosis' will lead to the diagnosis of Marfan syndrome.
One can also search using the name or symbol of the gene or even the OMIM number. Note that this technique often yields a short list of disorders because the condition being sought may be mentioned in descriptions of other disorders as links or discussed for comparison. This requires further exploration to pinpoint the exact disease of interest or to generate a list of diagnostic possibilities. The list of Clinical Features then becomes useful to shorten the diagnostic list by clicking on a feature to generate a list of other conditions with the same feature.
Further diagnostic challenges arise from the use of alterrnate terms for signs and symptoms particularly in older literature. Hearing loss may be described as deafness, neurosensory hearing loss, or conductive deafness, etc. A flat midface is sometimes called maxillary hypoplasia or underdevelopment. Psychomotor deficits may be labeled mental retardation, developmental delay, or cognitive deficits. And, of course, diagnostic criteria are constantly being revised. A certain amount of creativity and flexibility can be helpful in the search process.