Lymphedema-distichiasis syndrome

Disease Overview

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 syndrome have extra eyelashes (distichiasis) and develop puffiness or swelling (lymphedema) of the limbs, most often the legs and feet. 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 that may occur in lymphedema-distichiasis syndrome include varicose veins, droopy eyelids (ptosis), heart abnormalities, and an opening in the roof of the mouth (cleft palate).[3220][14524][14525] 

Lymphedema-distichiasis syndrome is caused by changes (referred to as mutations or pathogenic variants) in the FOXC2 gene. It is inherited in an autosomal dominant pattern.[3220][14524] Diagnosis of this syndrome is based on a thorough clinical examination, detailed patient history, and identification of the symptoms mentioned above. Clinical genetic testing can be used to confirm the diagnosis. Treatment is directed at the specific symptoms present in each case. This may include complete decongestive therapy, a comprehensive management technique used to treat lympedema and/or lubrication and removal of the extra eyelashes via plucking, cryotherapy, or electrolysis.[14524][14525]

Synonyms

• Lymphedema with distichiasis
• Hereditary lymphedema-distichiasis syndrome (subtype)