This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Milroy disease affects the lymphatic system and can lead to swelling (lymphedema) of the legs and feet. Prior to birth, symptoms of Milroy disease may include fluid buildup in the legs and feet and sometimes, within the body (nonimmune hydrops). After birth, symptoms may include swelling of the lower limbs, a buildup of fluid in the scrotum (hydrocele), and skin changes. People with Milroy disease have an increased risk for developing skin infections and certain types of cancer. Milroy disease occurs when the FLT4 gene is not working correctly. It is inherited in an autosomal dominant pattern. The diagnosis of Milroy disease is made based on the symptoms, a clinical exam and other types of testing. The diagnosis may be confirmed by genetic testing. Treatment is focused on managing the symptoms.
For more information, visit GARD.