Overview
Donohue Syndrome, also known as Leprechaunism, is an extremely rare autosomal recessive disorder caused by a mutation in the insulin receptor gene. It is characterized by failure to thrive and various physical abnormalities, including enlarged tongue, excessive body hair, a large head circumference and underdeveloped bone structure. People with Donohue Syndrome tend to show poor growth and development, are prone to infections and have a high risk of early death. Treatment is supportive and clinical management is based on the severity of the symptoms. There is no cure yet, but research is ongoing. Donohue Syndrome is an important condition to raise awareness of and research into, as more knowledge about its underlying mechanisms could lead to improved diagnosis and treatments for this and other related conditions.