Pediatric and Primary Lymphedema (PPL-WG)
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 |