CCBE1 and lymphedema: HKLLS1 (Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM #235510) can be caused by mutation of FAT4, and in addition to lymphedema may also present with camptodactyly or syndactyly (Alders et al., 2014), digit aberrations common in ciliopathies (Baker and Beales, 2009; Norris and Grimes, 2012).