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Lymphedema-distichiasis syndrome
Other Names for this Disease
- Hereditary lymphedema-distichiasis syndrome (subtype)
- Lymphedema with distichiasis
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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 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.[1]
References
- Lymphedema-distichiasis syndrome. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/lymphedema-distichiasis-syndrome. Accessed April 1, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Lymphedema-distichiasis syndrome. Click on the link to go to GHR and review the information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Lymphedema-distichiasis syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Lymphedema-distichiasis syndrome. Click on the link to go to OMIM and review these resources.