A patient with the classical phenotype ofLymphedema-Distichiasis syndrome (OMIM153400) is described who showed no mutationsin the sequence of FOXC2. Accordingly, aGene Chip 250k array analysis was undertakenwith dense SNP genotyping of thegenomic region surrounding the FOXC2 locuson Chromosome 16 followed by copy numberevaluation by real time PCR. The latter assayshowed evidence of a duplicated region 5’ofFOXC2 that could be causative for thepatient’s striking phenotype, which includedboth distichiasis and a hyperplastic refluxinglymphatic vascular and lymph node phenotypeassociated with pubertal onset lymphedema, scoliosis and strabismus.