ErkrankungJeune-Syndrom, Differentialdiagnose

NGS +

Jeune-Syndrom, asphyxierende Thoraxdystrophie (JATD): Kurzrippendysplasie mit schmalem Thorax, kurzen Gliedmaßen + radiologischen Skelettanomalien einschließlich dreizackigem Aspekt der Hüftpfanne + metaphysären Veränderungen

• DD: Ellis-van Creveld syndrome (EVC, EVC2)
• DD: Loucks-Innes syndrome
• DD: Sensenbrenner syndrome
• Acrocallosal syndrome (KIF7)
• Acrocallosal syndrome (OFD1)
• Al-Gazali-Bakalinova syndrome (KIF7)
• Al-Gazali-Bakalinova syndrome (OFD1)
• Alias: Jeune asphyxiating thoracic dystrophy, JATD
• Alias: Thoracic-pelvic-phalangeal dystrophy
• Allelic: Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
• Allelic: Cranioectodermal dysplasia 4 (WDR19)
• Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 10 (CILK1)
• Allelic: Joubert syndrome 23 (KIAA0586)
• Allelic: Joubert syndrome 31 (CEP120)
• Allelic: Nephronophthisis 12 (TTC21B)
• Allelic: Nephronophthisis 13 (WDR19)
• Allelic: Orofaciodigital syndrome XVII (INTU)
• Allelic: Retinal dystrophy with macular staphyloma (CFAP410)
• Allelic: Retinitis pigmentosa 71 (IFT172)
• Allelic: Retinitis pigmentosa 80 (IFT140)
• Allelic: Retinitis pigmentosa 81 (IFT43)
• Allelic: Senior-Loken syndrome 8 (WDR19)
• Allelic: Weyers acrofacial dysostosis (EVC, EVC2)
• Cranioectodermal dysplasia 1 (IFT122)
• Cranioectodermal dysplasia 2 (WDR35)
• Cranioectodermal dysplasia 3 (IFT43)
• Endocrine-cerebroosteodysplasia (CILK1)
• Hydrolethalus syndrome (HYLS1)
• Hydrolethalus syndrome 2 (KIF7)
• Hydrolethalus syndrome 2 (OFD1)
• Joubert syndrome 12 (KIF7)
• Joubert syndrome 12 (OFD1)
• Joubert syndrome 21 (CSPP1)
• Orofaciodigital syndrome XIV (C2CD3)
• Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
• Short-rib thoracic dysplasia 11 with/-out polydactyly (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 (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 (IFT140)
• Spondylometaphyseal dysplasia, axial (CFAP410)