ErkrankungZwerchfellhernien, kongenital, Differentialdiagnose

NGS +

[Sanger]

Defekt während der Embryogenese, der nicht-syndromisch (70%) oder syndromisch (30%) sein kann, mit posterolateralem Zwerchfelldefekt, der die Passage der abdominalen Eingeweide in den Thorax erlaubt und zu respiratorischer Insuffizienz + persistierender pulmonaler Hypertonie führt

• Apert syndrome (FGFR2)
• Arterial tortuosity syndrome (SL2A10)
• Beckwith-Wiedemann syndrome (imprinting defect at 11p15.5; CDKN1C)
• CHARGE syndrome (CHD7)
• Cardiac-urogenital syndrome (MYRF)
• Coffin-Siris syndrome (ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, SOX11)
• Congenital diaphragmatic hernia + heart defects (GATA4)
• Congenital heart defects, multiple types, 4 (NR2F2)
• Cornelia de Lange syndrome (NIPBL, RAD21, SMC3, HDAC8, SMC1A)
• Craniofrontonasal syndrome (EFNB1)
• Denys-Drash syndrome (WT1)
• Diaphragmatic hernia type 3 (ZFPM2)
• Donnai-Barrow syndrome (LRP2)
• Focal dermal hypoplasia (PORCN)
• Fraser syndrome (FRAS1, FREM2)
• Heart defects, congenital & other congenital anomalies (GATA6)
• Kabuki syndrome (KMT2D, KDM6A)
• LTBP4-related cutis laxa (LTBP4)
• Marfan syndrome (FBN1)
• Meacham syndrome (WT1)
• Microphthalmia with linear skin defects syndrome (COX7B, HCCS, NDUFB11)
• Microphthalmia, syndromic (RARB, STRA6)
• Multiple congenital anomalies-hypotonia-seizures syndrome (PIGN)
• Simpson-Golabi-Behmel syndrome type 1 (GPC3)
• Spondylocostal dysostosis (DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6)
• Tonne-Kalscheuer syndrome (RLIM)
• Vascular Ehlers-Danlos syndrome (COL3A1)
• White-Sutton syndrome (POGZ)