Lymphedema distichiasis syndrome

Overview

Type of disease: Rare conditions

Lymphedema distichiasis syndrome is a condition that affects the normal function of the lymphatic system (part of the immune system that produces and transports fluids and immune cells throughout the body). People with this condition are born with extra eyelashes (distichiasis) and develop puffiness or swelling (lymphedema) of the limbs by the time they are in their forties. The abnormal eyelashes, which grow along the inner lining of the eyelid, often touch the eyeball and can cause damage to the clear covering of the eye (cornea). Other eye problems such as an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea may also occur. Other health problems, varicose veins, droopy eyelids (ptosis), heart abnormalities, and an opening in the roof of the mouth (a cleft palate), may also be present. Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. This condition is inherited in an autosomal dominant pattern. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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