Table 1

An overview of genetic disorders with primary lymphoedema as a frequent and dominant feature, categorised by inheritance and age of onset

Autosomal dominantLate onset (>1 year)Lymphoedema distichiasis syndrome (LDS)33 001153 400FOXC2
Late onset 4-limb lymphoedema613 480GJC2
Emberger syndrome / Primary lymphoedema with myelodysplasia3226614 038GATA2
Late-onset hereditary lymphoedemaCELSR1
Meige disease90 186153 200?
Congenital (<1 year)Milroy disease79 452153 100VEGFR3/FLT4
Congenital primary lymphoedema of Gordon615 907VEGFC
Microcephaly-chorioretinopathy-lymphoedema syndrome2526152 950KIF11
Capillary malformation-arteriovenous malformation (CMAVM)608354 618 196RASA1EPHB4
Autosomal dominant lymphatic-related foetal hydrops (LRFH)617 300EPHB4
Hypotrichosis-lymphoedema-telangiectasia-renal defect syndrome (HLTRS)69 735137 940SOX18
Autosomal recessiveHypotrichosis-lymphoedema-telangiectasia syndrome (HLTS)69 735607 823SOX18
Hennekam-lymphangiectasia-lymphoedema syndrome Type 1, 2 and 32136235510 616006 618 154CCBE1FAT4ADAMTS3
Generalised lymphatic dysplasia of Fotiou616 843PIEZO1
MosaicismPIK3CA-related overgrowth spectrum (PROS)171 834PIK3CA
Mosaic RASopathiese.g. KRAS/NRAS/HRAS/MAP2K1
  • Their position in the classification pathway is indicated by the same colour coding as used in figure 1. For each disorder, the causal gene, Orphanet and OMIM IDs are given where known.