Lymphedema-Distichiasis Syndrome

Background and History: 

This disorder consists of an unusual combination of findings with swelling of the legs and abnormal eyelashes although other serious problems can occur.

Clinical Correlations: 

Swelling of the legs below the knees is usually seen first, sometimes as early as the first decade of life.  It occurs earlier and is more likely associated with other abnormalities in males.  The edema (fluid accumulation) is usually confined to the legs and is often asymmetrical.  Sores and infections such as cellulitis and athletes’ foot are a risk due to the poor circulation.  Cardiac defects, cleft palate, cysts of the spinal cord, type II diabetes and kidney disease may be associated with swelling of the arms and legs in some patients.

The eyelashes often grow in duplicated rows but in an abnormal direction that sometimes allows them to rub against the cornea (windshield of the eye).  When the later occurs, it causes severe discomfort due to the scratching.  Tearing, blurred vision, and light sensitivity often result.  Some patients, though, do not experience this and require no treatment.


This disorder is generally passed directly from parent to child in a vertical pattern of inheritance.  Affected parents can expect on average that half their children will inherit the disorder.

Diagnosis and Prognosis: 

The swelling of the arms and legs is due to inadequate drainage of the lymph (lymphedema) and can be diagnosed by a physician.  The abnormal lashes, though, are difficult to see without a microscopic examination by an ophthalmologist.  The abnormal lashes can be removed in severe cases although they often grow back.  It is important that infections of the lower legs are treated promptly.

Additional Information
Autosomal dominant