Leprechaunism derives its name from the hallmark elvish features (small stature, bulging eyes, thick lips, and upturned nostrils) exhibited by the affected individuals.

Facial features indicative of Donohue syndrome include protuberant and low-set ears, flaring nostrils, unusually large mouth, thick lips, and widely spaced eyes.

[citation needed] A much milder form of the disease, in which there is some insulin resistance but normal growth and subcutaneous fat distribution, is also known.

The INSR gene spans over one hundred and twenty thousand base pairs, which contain twenty-two exons coding for a protein that consists of 1382 amino acids.

However, because spontaneous abortion (miscarriage) often results when the fetus has the disease, in actuality the proportion of children born alive with Donohue syndrome will be lower than 25%.

As expected for a genetic disease that can be caused by many different mutations, it is not limited to a specific ethnic group, and has been seen in people of various races.

[citation needed] The cause of the disease is the lack of a fully functional insulin receptor, which has a profound effect during fetal development and thereafter.

[4] The beta cells in the pancreas, which make and store insulin and release it on an as-needed basis, are often found to be very large or numerous.

[citation needed] While there currently is no cure for Donohue syndrome, treatments for those with the disease are tailored specifically to the symptoms present in each individual.

It is often that a team of medical professionals will come together to treat a patient with this condition in their specific realm of practice such as pediatrics, endocrinology, and dermatology.

[3] Treatment will often address specific dysfunctions in the patient, such as skin defects, hormonal imbalances, and normal progression of child growth.

[4] The National Institute of Diabetes and Digestive Kidney Diseases sponsored a phase 2 clinical study in 2001 that would look at the effectiveness of leptin to treat severe insulin resistance.