Lymphedema-distichiasis syndrome is a rare genetic multisystem disorder, characterized by lower-limb lymphedema and distichiasis with occasional associated manifestations, including varicose veins, ptosis, heart abnormalities, and cleft palate. Aberrant eyelashes present at birth ranging from a full set of extra eyelashes to a single hair. The age of onset of lymphedema typically begins in late childhood or puberty. The condition is confined to the lower limbs, and is often asymmetric, with severity varying within families. About 25% of affected individuals are asymptomatic.
Lymphedema-distichiasis syndrome is inherited in an autosomal dominant pattern and is caused by mutations of the FOXC2 gene. This gene encodes a transcription factor protein, which has a role in a variety of developmental processes, such as the formation of veins and the development of the lungs, eyes, kidneys and urinary tract, cardiovascular system, and the lymphatic vessels.