Here, we describe primary lymphedema accompanied with PLE in 1 Chinese girl with 22q13.3 deletion, in which CELSR1, a potential novel disease-causing gene of hereditary lymphedema was noted.[7] We speculate that CELSR1 may be the genetic causative factor for primary lymphedema and PLE presented in 22q13.3 deletion syndrome. This evidence concerns the gene CELSR1 and lymphedema.