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). The gene discussed is CCBE1; the disease is ciliopathy.