Klinische FragestellungSensenbrenner-Syndrom, Differentialdiagnose

NGS +

Kongenitale skelettale + ektodermale Defekte in Verbindung mit dysmorphen Merkmalen, Nephronophthise, Leberfibrose, okulären Anomalien (hauptsächlich Retinitis pigmentosa)

DPH1-Mutationen: AR intellektuelle Behinderung, Kleinwuchs, kraniofaziale, ektodermale Anomalien

DD: Jeune asphyxierende Thoraxdystrophie (IFT80-Mutationen), Mainzer-Saldino-Syndrom (IFT140-Mutationen), Ellis-van Creveld-Syndrom (EVC-/EVC2-Mutationen), kurze Rippen-Polydaktylie-Syndrome (SRPS I-V); Senior-Loken-Syndrom (WDR19-Mutationen); EEM-Syndrom, ektodermale Dysplasie, Ektrodaktylie [gespaltene Hand-Spalt-Fuß-Malformation] + progressive Makula-Dystrophie (CDH3-Mutationen)

• Alias: Cranioectodermal dysplasia 1, 2, 3, 4
• Alias: Dysplasie, kranioektodermale 1-4
• Alias: Levin syndrome 1
• Allelic: Bardet-Biedl syndrome 14 (CEP290)
• Allelic: Bardet-Biedl syndrome 16 (SDCCAG8)
• Allelic: Bardet-Biedl syndrome 20 IFT172)
• Allelic: Joubert syndrome 23 (KIAA0586)
• Allelic: Joubert syndrome 31 (CEP120)
• Allelic: Joubert syndrome 4 (NPHP1)
• Allelic: Joubert syndrome 5 (CEP290)
• Allelic: Leber congenital amaurosis 10 (CEP290)
• Allelic: Meckel syndrome 4 (CEP290)
• Allelic: Nephronophthisis 1, juvenile (NPHP1)
• Allelic: Nephronophthisis 13 (WDR19)
• Allelic: Nephronophthisis 4 (NPHP4)
• Allelic: Orofaciodigital syndrome XVII (INTU)
• Allelic: Retinitis pigmentosa 71 (IFT172)
• Allelic: Retinitis pigmentosa 80 (IFT140)
• Allelic: Retinitis pigmentosa 81 (IFT43)
• Allelic: Senior-Loken syndrome 8 (WDR19)
• Allelic: Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
• Allelic: Short-rib thoracic dysplasia 11 with/-out polydactyly (WDR34)
• Allelic: Short-rib thoracic dysplasia 13 with/-out polydactyly (CEO120)
• Allelic: Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
• Allelic: Short-rib thoracic dysplasia 15 with polydactyly (DYNC2LI1)
• Allelic: Short-rib thoracic dysplasia 16 with/-out polydactyly (ITF52)
• Allelic: Short-rib thoracic dysplasia 18 with polydactyly (IFT43)
• Allelic: Short-rib thoracic dysplasia 19 with/-out polydactyly (IFT81)
• Allelic: Short-rib thoracic dysplasia 2 with/-out polydactyly (IFT80)
• Allelic: Short-rib thoracic dysplasia 20 with polydactyly )INTU)
• Allelic: Short-rib thoracic dysplasia 3 with/-out polydactyly (DYNC2H1)
• Allelic: Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
• Allelic: Short-rib thoracic dysplasia 6 with/-out polydactyly (NEK1)
• Allelic: Short-rib thoracic dysplasia 7 with/-out polydactyly (WDR35)
• Allelic: Short-rib thoracic dysplasia 8 with/-out polydactyly (WDR8)
• Allelic: Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
• Cranioectodermal dysplasia 1 (IFT122)
• Cranioectodermal dysplasia 2 (WDR35)
• Cranioectodermal dysplasia 3 (IFT43)
• Cranioectodermal dysplasia 4 (WDR19)
• Cranioectodermal dysplasia [genereviews] (IFT140)
• Cranioectodermal dysplasia [genereviews] (IFT52)
• Ellis-van Creveld syndrome (EVC, EVC2)
• Joubert syndrome [panelapp] (KIAA0753)
• Orofaciodigital syndrome XV (KIAA0753)
• Orofaciodigital syndrome XVII (INTU)
• Senior-Loken syndrome 1 (NPHP1)
• Senior-Loken syndrome 4 (NPHP4)
• Senior-Loken syndrome 5 (IQBC1)
• Senior-Loken syndrome 6 (CEP290)
• Senior-Loken syndrome 7 (SDCCAG8)
• Senior-Loken syndrome 9 (TRAF3IP1)
• Short-rib thoracic dysplasia 17 with/-out polydactyly (TXTEX1D2)
• Short-rib thoracic dysplasia 19 with or without polydactyly (IFT81)
• Short-rib thoracic dysplasia 20 with polydactyly (INTU)
• Short-rib thoracic dysplasia 21 without polydactyly (KIAA0753)
• Weyers acrofacial dysostosis (EVC, EVC2)