Indeed, either heterozygous or homozygous loss-of-function mutations [68,69,70] in SOX18 cause hypotrichosis-lymphedema-telangiectasia syndrome (OMIM: 607823); heterozygous loss-of-function mutations [71] in GATA2 cause Emberger syndrome (OMIM: 614038); and heterozygous gain-of-function mutations [7,72,73] in FOXC2 cause Lymphedema-distichiasis syndrome (OMIM: 153400). This evidence concerns the gene SOX18 and Lymphedema - distichiasis.