Lymphedema-distichiasis syndrome

Definition:

Lymphedema-distichiasis syndrome (LD) is an autosomal dominant disorder, characterized by late childhood or pubertal onset lymphedema of the limbs and double row of eyelashes. LD has been reported to be caused by mutations in the forkhead transcription factor, FOXC2.

References:

[1]. D N Finegold, et al. Truncating mutations in FOXC2 cause multiple lymphedema syndromes. Hum Mol Genet. 2001 May 15;10(11):1185-9. [Content Brief]

[2]. Maaike Vreeburg, et al. Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene. Int J Dermatol. 2008 Nov;47 Suppl 1:52-5. [Content Brief]

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