Hereditary Lymphedema-Distichiasis (HLD) is a hereditary condition associated with lymphedema and abnormal eyelashes.
Gene affected: FOXC2 (mesenchyme forkhead 1, MFH-1). The gene product is a transcription factor that is involved in a variety of developmental pathways
Mutation: truncating
Inheritance: autosomal dominant
Clinical features:
(1) variable age of onset for lymphedema, usually during puberty
(2) distichiasis (double row of eyelashes)
(3) variable problems in other organs (tetralogy of Fallot, varicose veins, nephritis, cleft palate, scoliosis, ocular malformations, other)
The eyelashes may protrude inward, causing corneal abrasions or eye irritation.
To read more or access our algorithms and calculators, please log in or register.
