ErkrankungMorbus Milroy; Differentialdiagnose

NGS +

• Alias: Hereditary lymphedema type I
• Alias: Lymphedema, hereditary, IA
• Alias: Milroy disease
• Alias: Nonne-Milroy lymphedema
• Alias: Primary congenital lymphedema
• Allelic: Congenital heart defects, multiple types, 7 (FLT4)
• Allelic: Hemangioma, capillary infantile, somatic (FLT4)
• Allelic: Van Maldergem syndrome 2 (FAT4)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Dehydrated hereditary stomatocytosis with/-out pseudohyperkalemia and/or perinatal edema (PIEZO1)
• Hennekam lymphangiectasia-lymphedema syndrome 1 (CCBE1)
• Hennekam lymphangiectasia-lymphedema syndrome 2 (FAT4)
• Hennekam lymphangiectasia-lymphedema syndrome 3 (ADAMTS3)
• Hypotrichosis-lymphedema-telangiectasia syndrome (SOX18)
• Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (SOX18)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• Lymphatic malformation 1, Morbus Milroy (FLT4)
• Lymphatic malformation 4 (VEGFC)
• Lymphatic malformation 6 (PIEZO1)
• Microcephaly with/-out chorioretinopathy, lymphedema or mental retardation (KIF11)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 10 (LZTR1)
• Noonan syndrome 2 (LZTR1)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome 4 (SOS1)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 6 (NRAS)
• Noonan syndrome 7 (BRAF)
• Noonan syndrome 8 (RIT)
• Noonan syndrome 9 (SOS2)
• Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
• Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)