IllnessMilroy disease, differential diagnosis

NGS +

Milroy's disease (hereditary lymphoedema type I) is a rare congenital form of lymphoedema. The disease is inherited in an autosomal dominant manner with variable expressivity and high, but not complete penetrance; pathogenic variants in the FLT4 gene have been identified as the cause.

The symptoms of Milroy's disease usually occur pre- or immediately postnatally and are mostly limited to the lower extremities/body regions. In addition to the typical lymphatic swelling of the legs, other symptoms such as hydrocele testes, prominent leg veins of the lower legs, papillomatosis, erect toenails and urethral anomalies can be observed.

The examined panel contains other genes that can lead to similar symptoms in the mutated state. An normal result does not definitively rule out a genetic cause of the symptom complex described.

(Reference: https://www.ncbi.nlm.nih.gov/books/NBK1239/)

• 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)