Klinische FragestellungThanatophore Dysplasie, Differentialdiagnose

NGS +

[Sanger]

Primäre Knochendysplasie mit Mikromelie, Makrozephalie, schmalem Thorax, distinkten Gesichtszügen; Typ 1 + 2 durch Femur + Schädelform unterschiedlich

• DD: Thanatophoric dysplasia I/II, Achondrogenesis (SLC26A2, TRIP11)
• DD: Thanatophoric dysplasia I/II, Campomelic dysplasia (SOX9)
• DD: Thanatophoric dysplasia I/II, Osteogenesis imperfecta type II (COL1A1, COL1A2)
• DD: Thanatophoric dysplasia I/II, Platyspondylic lethal skeletal dysplasia (COL2A1)
• DD: Thanatophoric dysplasia I/II, Rhizomelic chondrodysplasia punctata (PEX7)
• Allelic: Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
• Allelic: Bardet-Biedl syndrome 20 (IFT172)
• Allelic: Caffey disease (COL1A1)
• Allelic: Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
• Allelic: Ehlers-Danlos syndrome, arthrochalasia type, 2 (COL1A2)
• Allelic: Ehlers-Danlos syndrome, cardiac valvular type (COL1A2)
• Allelic: Nephronophthisis 12 (TTC21B)
• Allelic: Nephronophthisis 13 (WDR19)
• Allelic: Peroxisome biogenesis disorder 9B (PEX7)
• Allelic: Retinal dystrophy with macular staphyloma (CFAP410)
• Allelic: Retinitis pigmentosa 71 (IFT172)
• Allelic: Retinitis pigmentosa 80 (IFT140)
• Allelic: Schwartz-Jampel syndrome, type 1 (HSPG2)
• Achondrogenesis, type IA (TRIP11)
• Achondrogenesis, type IB (SLC26A2)
• Campomelic dysplasia (SOX9)
• Cranioectodermal dysplasia 1 (IFT122)
• Cranioectodermal dysplasia 2 (WDR35)
• Cranioectodermal dysplasia 4 (WDR19)
• Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2)
• Joubert syndrome 23 (KIAA0586)
• Joubert syndrome 31 (CEP120)
• Opsismodysplasia (INPPL1)
• Osteogenesis imperfecta, type I-IV (COL1A1)
• Osteogenesis imperfecta, type II-IV (COL1A2)
• Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
• Rhizomelic chondrodysplasia punctata, type (PEX7)
• SADDAN [severe achondroplasia + developmental delay + acanthosis nigricans] (FGFR3)
• Schneckenbecken dysplasia (SLC35D1)
• Senior-Loken syndrome 8 (WDR19)
• Senior-Loken syndrome 9 (TRAF3IP1)
• Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
• 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 19 with/-out polydactyly (IFT81)
• Short-rib thoracic dysplasia 2 with/-out polydactyly (IFT80)
• 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 (DYNC2I1)
• Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
• Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type (PAM16)
• Spondylometaphyseal dysplasia, Sedaghatian type (GPX4)
• Spondylometaphyseal dysplasia, axial (CFAP410)
• Thanatophoric dysplasia I/II (FGFR3)