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 abnormalityOMIMChromosome
Phelan McDermid syndrome606 23222q terminal deletion or ring chromosome 22
Prader Willi syndrome176 27015q11 microdeletion or maternal UPD 15
Thrombocytopenia with absent radius274 0001q21.1 microdeletion and RBM8A
Turner syndrome45,X0
Velocardiofacial syndrome192 43022q11 microdeletion
Syndromes caused by single gene fault OMIM Gene(s)
 Autosomal dominantNoonan/Cardiofaciocutaneous syndrome163 950 PTPN11, RIT1, RAF1, SOS1, KRAS, BRAF, MAP2K1, MAP2K2 plus others
CHARGE syndrome214 800 CDH7
Microcephaly-chorioretinopathy-lymphoedema-intellectual disability152 950 KIF11
Oculo-dento-digital syndrome164 200 GJA1
Hypotrichosis-lymphoedema-telangiectasia-renal-defect syndrome137 940 SOX18
Ruvalcaba syndrome180 870 PTEN
Costello syndrome218 040 HRAS
Sotos syndrome117 550 NSD1
Tuberous sclerosis191 100 TSC1, TSC2
Autosomal recessiveCarbohydrate-deficient glycoprotein types 1a, 1b and 1 hour212 065, 602 579, 608 104 PMM2, PM1, ALG8
Choanal atresia-lymphoedema613 611 PTPN14
Cholestasis-lymphoedema syndrome (Aagenaes syndrome)214 900
Hennekam-lymphangiectasia-lymphoedema syndrome type 1, 2 and 3235 510 to 616 006 CCBE1, FAT4, ADAMTS3
Hypotrichosis-lymphoedema-telangiectasia syndrome607 823 SOX18
 X linkedEctodermal dysplasia, anhidrotic, immunodeficiency, osteopetrosis and lymphoedema syndrome300 301 IKBKG (NEMO)
Fabry disease301 500 GLA
 SomaticCLOVES syndrome
Macrocephaly capillary malformation
602 501 PIK3CA
Syndromes with no known cause OMIM
Irons-Bianchi syndrome601 927
Mucke syndrome247 440
Progressive encephalopathy, hypsarrhythmia, optic atrophy260 565
Yellow nail syndrome153 300
  • The syndromes are categorised by mode of inheritance. The causal genes or structural variants and OMIM number are indicated where known.