Congenital lymphedema

Congenital lymphedema is swelling that results from abnormalities in the lymphatic system that are present from birth. Swelling may be present in a single affected limb, several limbs, genitalia, or the face. It is sometimes diagnosed prenatally by a nuchal scan or post-natally by lymphoscintigraphy. A hereditary form of congenital lymphedema is called Milroy's disease and is caused by mutations in the VEGFR3 gene. Congenital lymphedema is frequently syndromic and is associated with Turner syndrome, Lymphedema-distichiasis syndrome, yellow nail syndrome, and Klippel-Trénaunay-Weber syndrome. In some cases, the condition can sometimes be associated with congenital heart defect, among other things.