Klinische FragestellungZwerchfellhernien, 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

• Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
• Allelic: Glioblastoma 3 (BRCA2)
• Allelic: Medulloblastoma (BRCA2)
• Allelic: Pancreatic cancer 2 (BRCA2)
• Allelic: Prostate cancer (BRCA2)
• Allelic; Breast cancer, male, susceptibility to (BRCA2)
• Apert syndrome (FGFR2)
• Arterial tortuosity syndrome (SL2A10)
• Beckwith-Wiedemann syndrome (imprinting defect at 11p15.5; CDKN1C)
• CEBALID syndrome: Craniofacial defect, dysm. Ears, Brain Anomalies, expr. Language delay (MN1)
• CHARGE syndrome (CHD7)
• Cardiac-urogenital syndrome (MYRF)
• Coffin-Siris syndrome (ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, SOX11)
• Coffin-Siris syndrome 7 (DPF2)
• Congenital diaphragmatic hernia + heart defects (GATA4)
• Congenital disorder of glycosylation, type Ig (ALG12)
• Congenital heart defects + skeletal malformations syndrome (ABL1)
• Congenital heart defects, multiple types, 4 (NR2F2)
• Cornelia de Lange syndrome (NIPBL, RAD21, SMC3, HDAC8, SMC1A)
• Craniofrontonasal syndrome (EFNB1)
• Cutis laxa, AR, type IB (EFEMP2)
• Denys-Drash syndrome (WT1)
• Diaphragmatic hernia type 3 (ZFPM2)
• Diets-Jongmans syndrome (KDM3B)
• Donnai-Barrow syndrome (LRP2)
• Escobar syndrome (CHRNG)
• Facial clefting, oblique, 1 (SPECC1L)
• Fanconi anemia, complementation group D1 (BRCA2)
• Focal dermal hypoplasia (PORCN)
• Fraser syndrome (FRAS1, FREM2)
• Heart defects, congenital & other congenital anomalies (GATA6)
• Holoprosencephaly 13, XL (STAG2)
• Kabuki syndrome (KMT2D, KDM6A)
• LTBP4-related cutis laxa (LTBP4)
• Marfan syndrome (FBN1)
• Meacham syndrome (WT1)
• Meningioma (MN1)
• Menke-Hennekam syndrome 2 (EP300)
• Microphthalmia with linear skin defects syndrome (COX7B, HCCS, NDUFB11)
• Microphthalmia, syndromic (RARB, STRA6)
• Mullegama-Klein-Martinez syndrome (STAG2)
• Multiple congenital abnormalities [panelapp] (FOXP4)
• Multiple congenital anomalies-hypotonia-seizures syndrome (PIGN)
• Multiple joint dislocations, short stature, craniofacial dysm. +/- congenital heart defects (B3GAT3)
• Multiple pterygium syndrome, lethal type (CHRNG)
• Neurodevelopmental disorder [panelapp] (FOXP4)
• Rubinstein-Taybi syndrome 2 (EP300)
• Simpson-Golabi-Behmel syndrome type 1 (GPC3)
• Sotos syndrome (NSD1)
• Spondylocostal dysostosis (DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6)
• Teebi hypertelorism syndrome 1 (SPECC1L)
• Tonne-Kalscheuer syndrome (RLIM)
• Vascular Ehlers-Danlos syndrome (COL3A1)
• White-Sutton syndrome (POGZ)
• Wilms tumor (BRCA2)
• Witteveen-Kolk syndrome (SIN3A)