ErkrankungPränatales Noonan-Syndromspektrum, Differentialdiagnose

NGS +

[Sanger]

Hochvariable, multisystemische Erkrankung mit Kleinwuchs, markante Gesichtszüge, angeborene Herzfehler, Kardiomyopathie, hohes Risiko für Tumore im Kindesalter

• Sympt.: Short stature, facial dysmorphism, spectrum of congenital heart defects
• Alias: Female pseudo-Turner syndrome
• Alias: Male Turner syndrome
• Atypical Noonan syndrome (RRAS)
• Cardiofaciocutaneous syndrome (BRAF)
• Cardiofaciocutaneous syndrome 2 (KRAS)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Cardiofaciocutaneous syndrome 4 (MAP2K2)
• Costello syndrome (HRAS)
• Genitopatellar syndrome (KAT6B)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• Neurofibromatosis-Noonan syndrome (NF1)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 11 (MRAS)
• Noonan syndrome 12 (RRAS)
• Noonan syndrome 2 + 10 (LZTR1)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome 4 (SOS1)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 6 (NRAS)
• Noonan syndrome 7 (BRAF)
• Noonan syndrome 8 (RIT1)
• Noonan syndrome 9 (SOS2)
• Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
• Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
• Noonan syndrome-like with loose anagen hair 1 (SHOC2)
• SBBYSS syndrome (KAT6B)