Table 2

An overview of ‘Known Syndromes’ with primary lymphoedema as a non-dominant association as referred to in the St George’s classification algorithm (figure 1, blue section)

Syndromes caused by chromosomal abnormality		OMIM	Chromosome
Phelan McDermid syndrome		606 232	22q terminal deletion or ring chromosome 22
Prader Willi syndrome		176 270	15q11 microdeletion or maternal UPD 15
Thrombocytopenia with absent radius		274 000	1q21.1 microdeletion and RBM8A
Turner syndrome			45,X0
Velocardiofacial syndrome		192 430	22q11 microdeletion
Syndromes caused by single gene fault		OMIM	Gene(s)
Autosomal dominant	Noonan/Cardiofaciocutaneous syndrome	163 950	PTPN11, RIT1, RAF1, SOS1, KRAS, BRAF, MAP2K1, MAP2K2 plus others
	CHARGE syndrome	214 800	CDH7
	Microcephaly-chorioretinopathy-lymphoedema-intellectual disability	152 950	KIF11
	Oculo-dento-digital syndrome	164 200	GJA1
	Hypotrichosis-lymphoedema-telangiectasia-renal-defect syndrome	137 940	SOX18
	Ruvalcaba syndrome	180 870	PTEN
	Costello syndrome	218 040	HRAS
	Sotos syndrome	117 550	NSD1
	Tuberous sclerosis	191 100	TSC1, TSC2
Autosomal recessive	Carbohydrate-deficient glycoprotein types 1a, 1b and 1 hour	212 065, 602 579, 608 104	PMM2, PM1, ALG8
	Choanal atresia-lymphoedema	613 611	PTPN14
	Cholestasis-lymphoedema syndrome (Aagenaes syndrome)	214 900
	Hennekam-lymphangiectasia-lymphoedema syndrome type 1, 2 and 3	235 510 to 616 006	CCBE1, FAT4, ADAMTS3
	Hypotrichosis-lymphoedema-telangiectasia syndrome	607 823	SOX18
X linked	Ectodermal dysplasia, anhidrotic, immunodeficiency, osteopetrosis and lymphoedema syndrome	300 301	IKBKG (NEMO)
X linked	Fabry disease	301 500	GLA
Somatic	CLOVES syndrome Macrocephaly capillary malformation	602 501	PIK3CA
Syndromes with no known cause		OMIM
Irons-Bianchi syndrome		601 927
Mucke syndrome		247 440
Progressive encephalopathy, hypsarrhythmia, optic atrophy		260 565
Yellow nail syndrome		153 300

The syndromes are categorised by mode of inheritance. The causal genes or structural variants and OMIM number are indicated where known.