CELSR1 and lymphangiectasis: In 2016, Gonzalez-Garay et al.19 reported a family with symptomatic hereditary lymphedema across three generations based on a proband with a mutation in CELSR1. In 2019, Erickson et al.20 reported a family with CELSR1 haploinsufficiency, where lymphedema affected only the female members and the patients presented with lymphangiectasia, valve dysfunction, and thoracic duct reflux.