What is a medical zebra?

A medical zebra is rare a disease, one that is so rare that most doctors have not encountered a patient with that disease. Having only read about the disease in a textbook or in the case of many recently defined diseases, not at all. It is therefore difficult for medical doctors to diagnose these individuals. The term originates from a popular saying among clinicians, "when you hear hoofbeats, think horses, not zebras", meaning that when diagnosing a patient, one should first exclude the most common causes for a patients symptoms, before looking for rare causes. While this is a good idea in everyday practice, one must not forget to make the effort to go "zebra hunting" when the common causes don't explain the full clinical picture. This is especially important with the current growth of genetics and personalised medicine.

With the rapid expansion of knowledge within medical genetics, many new genetic diseases are being defined every year. It is therefore vital for all clinicians to be aware of these diseases, as well as the genetic methods available to diagnose them, in order to provide the best care for their patients.

Medical Zebras is a website about medicine, genetics and pathology.
If you have any particular subject you would like for me to write about, please contact me: themedicalzebras@gmail.com.

The information provided is for educational purposes only and does not constitute medical advice.