Table 1.

Known congenital lymphedema and lymphatic abnormality syndromes

Lymphedema syndromes	Gene (protein)
Cantu syndrome	ABCC9, KCNJ8
Cholestasis–lymphedema (Aagenaes) syndrome	Locus in 15q
Choanal atresia/lymphedema	PTPN14
Emberger syndrome	GATA2
Hennekam lymphangiectasia–lymphedema syndrome	CCBE1, FAT4
Hypotrichosis–lymphedema–telangiectasia syndrome	SOX18
Lymphedema–lymphangiectasia	HGF
Lymphedema–distichiasis syndrome	FOXC2
MCLMR	KIF11
Meige disease	GJC2 (CX47)
Milroy disease/Nonne–Milroy lymphedema	FLT4 (VEGFR-3)
Milroy-like disease	VEGFC, KIF11
Noonan syndrome 1	PTPN11 (SHP2), SOS1, KRAS, RAF1
Oculodentodigital dysplasia/lymphedema	GJA1 (CX43)
OLEDAID syndrome	IKBKG (NEMO)
Parkes–Weber syndrome	RASA1
Other lymphatic anomalies	Responsible gene (protein) or chromosomal abnormality
CLOVES syndrome, Klipple–Trenaunay–Weber syndrome	PIK3CA
Costello syndrome	HRAS
Fetal chylothorax	ITGA9
Proteus syndrome, PTEN hamartoma tumor syndrome	PTEN, AKT1
Turner syndrome	Monosomy X

Data are from References 9 and 176–178. Abbreviations: CLOVES, congenital lipomatous overgrowth, vascular malformations, epidermal nevis, spinal/skeletal anomalies/scoliosis; MCLMR, microcephaly with or without chorioretinopathy, lymphedema, or mental retardation; OLEDAID, ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema.