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Lymphedema distichiasis syndrome

An autosomal dominant disorder that presents as lymphedema of the limbs and double rows of eyelashes (distichiasis). Irritation of the CORNEA, with corneal ulceration in some cases, brings the patients to the attention of ophthalmologists. Other complications may include cardiac defects, VARICOSE VEINS, ptosis, spinal extradural cysts, and PHOTOPHOBIA. Mutations in the FOXC2 gene have been identified. OMIM: 153400
Also Known As:
Hereditary lymphedema-distichiasis syndrome; Lymphedema with distichiasis; Lymphedema-Distichiasis Syndrome
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