Diseases covered

Main Thematic Group: primary lymphedemas including syndromic lymphedema in children and adults, and lymphovascular disorders. Secondary lymphedema in children up to 18 years of age.

Related Rare Or Complex Disease(s):
Lymphedema (ORPHA79383)

Congenital Lymphedema

  • Milroy syndrome (ORPHA79452)

Late onset lymphedema

  • Meige syndrome (ORPHA90186)
  • Lymphedema distichiasis syndrome (ORPHA33001)
  • Emberger syndrome (ORPHA3226)

Lymphedema with systemic involvement

  • Hennekam syndrome (ORPHA2136)
  • PIEZO1 related lymphatic dysplasia
  • Generalised lymphatic dysplasia
  • Multi-systemic lymphedema with systemic involvement

Syndromes associated with lymphedema

  • Noonan/CFC syndrome (RASOpathies) (ORPHA648)
  • Turner syndrome (ORPHA881)
  • 22q13 microdeletion (ORPHA48652)
  • Microcephaly with or without Chorioretinopathy, Lymphedema and Mental Retardation (MCLMR)(ORPHA2526)

Bases for the estimated incidence and prevalence numbers: 500 Million inhabitants within European union with about 6 million newborns annually.

All HCP in the PPL-WG are covering this sub-thematic area of expertise.

Sub-thematic areas of expertise Rare of complex disease(s) or condition(s) or highly specialized interventions Code/ICD/Orphacode/Group of Codes Incidence (Number of cases/year) in the EU Prevalence (in the EU)
Pediatric and Primary Lymphedema Yellow nail syndrome ORPHA662
Pediatric and Primary Lymphedema Turner syndrome due to structural X chromosome anomalies ORPHA99413
Pediatric and Primary Lymphedema Turner syndrome ORPHA881
Pediatric and Primary Lymphedema Syndromic lymphedema ORPHA89832
Pediatric and Primary Lymphedema Segmental progressive overgrowth syndrome with fibroadipose hyperplasia ORPHA314662
Pediatric and Primary Lymphedema Primary lymphedema with associated anomalies ORPHA458841
Pediatric and Primary Lymphedema Primary lymphedema ORPHA77240
Pediatric and Primary Lymphedema Noonan syndrome-like disorder with loose anagen hair ORPHA2701
Pediatric and Primary Lymphedema Noonan syndrome-like disorder with juvenile myelomonocytic leukemia ORPHA363972
Pediatric and Primary Lymphedema Noonan syndrome with multiple lentigines ORPHA500
Pediatric and Primary Lymphedema Noonan syndrome and Noonan-related syndrome ORPHA98733
Pediatric and Primary Lymphedema Noonan syndrome ORPHA648
Pediatric and Primary Lymphedema Non-hereditary late-onset primary lymphedema ORPHA90185
Pediatric and Primary Lymphedema Monosomy 22q13 ORPHA48652
Pediatric and Primary Lymphedema Milroy disease ORPHA79452
Pediatric and Primary Lymphedema Microcephaly-lymphedema-chorioretinopathy syndrome ORPHA2526
Pediatric and Primary Lymphedema Meige disease ORPHA90186
Pediatric and Primary Lymphedema Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome ORPHA487796
Pediatric and Primary Lymphedema Lymphedema-posterior choanal atresia syndrome ORPHA99141
Pediatric and Primary Lymphedema Lymphedema-distichiasis syndrome ORPHA33001
Pediatric and Primary Lymphedema Lymphedema-cerebral arteriovenous anomaly syndrome ORPHA86914
Pediatric and Primary Lymphedema Lymphedema-atrial septal defects-facial changes syndrome ORPHA86915
Pediatric and Primary Lymphedema Lymphedema ORPHA79383 600 prevalence of primary lymphedema is unknown, but is approximately 50 000
Pediatric and Primary Lymphedema Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ORPHA69735
Pediatric and Primary Lymphedema Hennekam syndrome ORPHA2136
Pediatric and Primary Lymphedema Genetic primary lymphedema ORPHA459530
Pediatric and Primary Lymphedema Deafness-lymphedema-leukemia syndrome ORPHA3226
Pediatric and Primary Lymphedema Dahlberg-Borer-Newcomer syndrome ORPHA1563
Pediatric and Primary Lymphedema Cholestasis-lymphedema syndrome ORPHA1414
Pediatric and Primary Lymphedema Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA69088
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