Klinische FragestellungThorax-Dystrophien, Differentialdiagnose

NGS +

• Alias: Asphyxiierende Thoraxdystrophie (des Neugeborenen)
• Alias: Jeune Asphyxiyting Thorax Dystrophy, JATD
• Alias: Jeune Syndrom
• Allelic: Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
• Allelic: Bladder cancer, somatic; Cervical cancer, somatic; Colorectal cancer, somatic (FGFR3)
• Allelic: CATSHL syndrome (FGFR3)
• Allelic: Cervical cancer, somatic (FGFR3)
• Allelic: Colorectal cancer, somatic (FGFR3)
• Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
• Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 10 (CILK1)
• Allelic: Hypochondroplasia (FGFR3)
• Allelic: Joubert syndrome 23 (KIAA0586)
• Allelic: Joubert syndrome 29 (TMEM107)
• Allelic: LADD syndrome (FGFR3)
• Allelic: Meckel syndrome 13 (TMEM107)
• Allelic: Muenke syndrome (FGFR3)
• Allelic: Naevus, epidermal, somatic (FGFR3)
• Allelic: Nephronophthisis 12 (TTC21B)
• Allelic: Nephronophthisis 13 (WDR19)
• Allelic: Retinal dystrophy with macular staphyloma (CFAP410 syn. C21orf2)
• Allelic: Retinal dystrophy with macular staphyloma (CFAP410)
• Allelic: Retinitis pigmentosa 23 (OFD1)
• Allelic: Retinitis pigmentosa 71 (IFT172)
• Allelic: Retinitis pigmentosa 80 (IFT140)
• Allelic: Retinitis pigmentosa 81 (IFT43)
• Allelic: Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
• Allelic: Spermatocytic seminoma, somatic (FGFR3)
• Allelic: Thanatophoric dysplasia, type I + II (FGFR3)
• Achondroplasia, homozygous (FGFR3)
• Acrocallosal syndrome (KIF7)
• Al-Gazali-Bakalinova syndrome (KIF7)
• Alias: Asphyxiierende Thoraxdystrophie des Neugeborenen
• Allelic: Bardet-Biedl syndrome 22 (IFT74)
• Allelic: Spermatogenic failure 58 (IFT74)
• Cardioacrofacial dysplasia 1 (PRKACA)
• Cranioectodermal dysplasia 1 (IFT122)
• Cranioectodermal dysplasia 2 (WDR35)
• Cranioectodermal dysplasia 3 (IFT43)
• Cranioectodermal dysplasia 4 (WDR19)
• Ellis-van Creveld syndrome (EVC, EVC2)
• Endocrine-cerebroosteodysplasia (CILK1)
• Hydrolethalus syndrome (HYLS1)
• Hydrolethalus syndrome 2 (KIF7)
• Hyperparathyroidism, transient neonatal (TRPV6)
• Joubert syndrome 10 (OFD1)
• Joubert syndrome 12 (KIF7)
• Joubert syndrome 21 (CSPP1)
• Joubert syndrome 31 (CEP120)
• Joubert syndrome 40 (IFT74)
• Orofaciodigital syndrome I (OFD1)
• Orofaciodigital syndrome V (DDX59)
• Orofaciodigital syndrome XIV (C2CD3)
• Orofaciodigital syndrome XV (KIAA9753)
• Orofaciodigital syndrome XVI (TMEM107)
• Orofaciodigital syndrome XVII (INTU)
• SADDAN (FGFR3)
• Senior-Loken syndrome 8 (WDR19)
• Senior-Loken syndrome 9 (TRAF3IP1)
• Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
• Short-rib thoracic dysplasia 11 with/-out polydactyly (DYNC2I2 syn. WDR34)
• Short-rib thoracic dysplasia 13 with/-out polydactyly (CEP120)
• Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
• Short-rib thoracic dysplasia 15 with polydactyly (DYNC2LI1)
• Short-rib thoracic dysplasia 16 with/-out polydactyly (IFT52)
• Short-rib thoracic dysplasia 17 with/-out polydactyly (DYNLT2B syn. TCTEX1D2)
• Short-rib thoracic dysplasia 18 with polydactyly (IFT43)
• Short-rib thoracic dysplasia 19 with/-out polydactyly (IFT81)
• Short-rib thoracic dysplasia 2 with/-out polydactyly (IFT80)
• Short-rib thoracic dysplasia 20 with polydactyly (INTU)
• Short-rib thoracic dysplasia 3 with/-out polydactyly (DYNC2H1)
• Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
• Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
• Short-rib thoracic dysplasia 6 with/-out polydactyly (NEK1)
• Short-rib thoracic dysplasia 7 with/-out polydactyly (WDR35)
• Short-rib thoracic dysplasia 8 with/out polydactyly (WDR60)
• Short-rib thoracic dysplasia 9 with/-out polydactyly [Mainzer-Saldino syndrome] (IFT140)
• Spondylometaphyseal dysplasia, axial (CFAP410 syn. C21orf2)
• Spondylometaphyseal dysplasia, axial (CFAP410)
• Weyers acrofacial dysostosis (EVC, EVC2)