Klinische FragestellungPränatal auffälliges Skelett, Differentialdiagnose

NGS +

[Sanger]

Das Panel deckt ein breites Spektrum seltener Skelettdysplasien ab, jeweils mit spezifischen Rezidivrisiken und dysmorphischer Ausprägung, Auswirkungen auf das Überleben und die Lebensqualität von Neugeborenen. Die zufällige Entdeckung von Skelettanomalien beim routinemäßigen Ultraschall-Screening erfordert eine systematische Untersuchung der Gliedmaßen, des Kopfes, des Brustkorbes und der Wirbelsäule, um die richtige Diagnose zu stellen.

• 3-M syndrome 1 (CUL7)
• 3-M syndrome 2 (OBSL1)
• Aarskog-Scott syndrome (FGD1)
• Achondrogenesis Ib (SLC26A2)
• Achondrogenesis, type IA (TRIP11)
• Achondrogenesis, type II or hypochondrogenesis (COL2A1)
• Achondroplasia (FGFR3)
• Acrofacial dysostosis 1, Nager type (SF3B4)
• Acromicric dysplasia (FBN1)
• Adams-Oliver syndrome 4 (EOGT)
• Alias: Prenatally unusual skeletal ultrasound findings
• Alias: Pränatale Skelettdysplasie
• Allelic: Bardet-Biedl syndrome 20 (IFT172)
• Allelic: CATSHL syndrome (FGFR3)
• Allelic: Caffey disease (COL1A1)
• Allelic: FG syndrome 2 (FLNA)
• Allelic: MEND syndrome (EBP)
• Allelic: Peroxisome biogenesis disorder 2A (Zellweger) + 2B (PEX5)
• Allelic: Peroxisome biogenesis disorder 9B (PEX7)
• Allelic: Pseudohypoparathyroidism IIa, Ib, Ic (GNAS)
• Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
• Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
• Apert syndrome (FGFR2)
• Arthrogryposis, distal, type 2A [Freeman-Sheldon] (MYH3)
• Arthrogryposis, distal, type 2B3 [Sheldon-Hall] (MYH3)
• Atelosteogenesis, type I, III (FLNB)
• Atelosteogenesis, type II (SLC26A2)
• Baller-Gerold syndrome (RECQL4)
• Beare-Stevenson cutis gyrata syndrome (FGFR2)
• Bent bone dysplasia syndrome (FGFR2)
• Boomerang dysplasia (FLNB)
• Brachydactyly, type B1 (ROR2)
• Brachydactyly, type D + E (HOXD13)
• Brachydactyly-syndactyly syndrome (HOXD13)
• Brachyolmia type 3 (TRPV4)
• Bruck syndrome 2 (PLOD2)
• CHILD syndrome (NSDHL)
• Carpenter syndrome 2 (MEGF8, RAB23)
• Catel-Manzke syndrome (TGDS)
• Chitayat syndrome (ERF)
• Chondrodysplasia punctata, XLD (EBP)
• Chondrodysplasia, Blomstrand type (PTH1R)
• Cleidocranial dysplasia (RUNX2)
• Combined osteogenesis imperfecta + Ehlers-Danlos syndrome 1 (COL1A1)
• Combined osteogenesis imperfecta + Ehlers-Danlos syndrome 2 (COL1A2)
• Contractures, pterygia + spondylocarpostarsal fusion syndrome 1A (MYH3)
• Cousin syndrome (TBX15)
• Cranioectodermal dysplasia 1 (IFT122)
• Cranioectodermal dysplasia 2 (WDR35)
• Cranioectodermal dysplasia 3 (IFT43)
• Cranioectodermal dysplasia 4 (WDR19)
• Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
• Craniofrontonasal dysplasia (EFNB1)
• Craniosynostosis + dental anomalies (IL11RA)
• Craniosynostosis 1 (TWIST1)
• Craniosynostosis 2 (MSX2)
• Craniosynostosis 3 (TCF12)
• Craniosynostosis 4 (ERF)
• Craniosynostosis, nonspecific (FGFR2)
• Crouzon syndrome (FGFR2)
• Crouzon syndrome with acanthosis nigricans (FGFR3)
• Czech dysplasia (COL2A1)
• De la Chapelle dysplasia (SLC26A2)
• Diastrophic dysplasia (SSLC26A2)
• Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
• Digital arthropathy-brachydactyly, familial (TRPV4)
• Duane-radial ray syndrome (SALL4)
• Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
• Ehlers-Danlos syndrome, arthrochalasia type, 2 (COL1A2)
• Eiken syndrome (PTH1R)
• Ellis-van Creveld syndrome (EVC)
• Epiphyseal dysplasia, multiple, 2 (COL9A2)
• Epiphyseal dysplasia, multiple, 4 (SLC26A2)
• Epiphyseal dysplasia, multiple, 6 (COL9A1)
• Fetal akinesia deformation sequence 2 (RAPSN)
• Fibrochondrogenesis 1 (COL11A1)
• Fibrochondrogenesis 2 (COL11A2)
• Floating-Harbor syndrome (SRCAP)
• Frontometaphyseal dysplasia 1 (FLNA)
• Frontonasal dysplasia 1 (ALX3)
• Frontonasal dysplasia 2 (ALX4)
• Geleophysic dysplasia 2 (FBN1)
• Greenberg skeletal dysplasia (LLBR)
• Greig cephalopolysyndactyly syndrome (GLI3)
• Hartsfield syndrome (FGFR1)
• Holt-Oram syndrome (TBX5)
• Hypochondroplasia (FGFR3)
• Hypophosphatasia, adult, childhood, infantile (ALPL)
• IFAP syndrome with/-out BRESHECK syndrome (MBTPS2)
• IVIC syndrome (SALL4)
• Insulin-like growth factor I, resistance to (IGF1R)
• Jackson-Weiss syndrome (FGFR1, FGFR2)
• Joubert syndrome 18 (TCTN3)
• Joubert syndrome 21 (CSPP1)
• Juberg-Hayward syndrome (ESCO2)
• Keutel syndrome (MGP)
• Klippel-Feil syndrome 1, AD (GDF6)
• Kniest dysplasia (COL2A1)
• LADD syndrome (FGFR2, FGFR3)
• Langer mesomelic dysplasia (SHOX)
• Leri-Weill dyschondrosteosis (SHOX)
• Loeys-Dietz syndrome 1 (TGFBR1)
• Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
• Marshall syndrome (COL11A1)
• Melnick-Needles syndrome (FLNA)
• Metaphyseal anadysplasia 1 (MMP13)
• Metaphyseal chondrodysplasia, Murk Jansen type (PTH1R)
• Metaphyseal chondrodysplasia, Schmid type (COL10A1)
• Metaphyseal dysplasia with maxillary hypoplasia with/-out brachydactyly (RUNX2)
• Metaphyseal dysplasia, Spahr type (MMP13)
• Metatropic dysplasia (TRPV4)
• Microphthalmia, syndromic 6 (BMP4)
• Miller syndrome (DHODH)
• Muenke syndrome (FGFR3)
• Mulibrey nanism (TRIM37)
• Multiple pterygium syndrome, lethal type (CHRNA1, CHRND, CHRNG)
• Multiple synostoses syndrome 4 (GDF6)
• Noonan syndrome 3 (KRAS)
• Odontochondrodysplasia 1 (TRIP11)
• Odontohypophosphatasia (ALPL)
• Opsismodysplasia (INPPL1)
• Orofacial cleft 11 (BMP4)
• Orofaciodigital syndrome IV (TCTN3)
• Osteogenesis imperfecta, type I, II, III, IV (COL1A1)
• Osteogenesis imperfecta, type II, III, IV (COL1A2)
• Osteogenesis imperfecta, type IX (PPIB)
• Osteogenesis imperfecta, type V (IFITM5)
• Osteogenesis imperfecta, type VII (CRTAP)
• Osteogenesis imperfecta, type VIII (P3H1)
• Osteogenesis imperfecta, type XIII (BMP1)
• Osteogenesis imperfecta, type XIX (MBTPS2)
• Osteogenesis imperfecta, type XV (WNT1)
• Osteoglophonic dysplasia (FGFR1)
• Otopalatodigital syndrome, type I, II (FLNA)
• Otospondylomegaepiphyseal dysplasia, AD + AR (COL11A2)
• Pallister-Hall syndrome (GLI3)
• Parastremmatic dwarfism (TRPV4)
• Parietal foramina 1 (MSX2)
• Parietal foramina 2 (ALX4)
• Parietal foramina with cleidocranial dysplasia (MSX2)
• Pfeiffer syndrome (FGFR1, FGFR2)
• Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
• Polydactyly, postaxial, types A1, B (GLI3)
• Polydactyly, preaxial, type IV (GLI3)
• RAPADILINO syndrome (RECQL4)
• Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
• Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
• Rhizomelic chondrodysplasia punctata, type 3 (AGPS)
• Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
• Roberts-SC phocomelia syndrome (ESCO2)
• Robinow syndrome, AR (ROR2)
• Robinow-Sorauf syndrome (TWIST1)
• Rothmund-Thomson syndrome, type 2 (RECQL4)
• SADDAN (FGFR3)
• SED congenita (COL2A1)
• SED, Maroteaux type (TRPV4)
• SHORT syndrome (PIK3R1)
• SMED Strudwick type (COL2A1)
• Saethre-Chotzen syndrome (FGFR2)
• Saethre-Chotzen syndrome with/-out eyelid anomalies (TWIST1)
• Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
• Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
• Schneckenbecken dysplasia (SLC35D1)
• Short stature, idiopathic familial (SHOX)
• Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
• Short-rib thoracic dysplasia 18 with polydactyly (IFT43)
• 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 9 with/-out polydactyly (IFT140)
• Shprintzen-Goldberg syndrome (SKI)
• Shwachman-Diamond syndrome (SBDS)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Spondylocarpotarsal synostosis syndrome (FLNB)
• Spondylocostal dysostosis 1, AR (DLL3)
• Spondylocostal dysostosis 2, (MESP2)
• Spondylocostal dysostosis 3, AR (LFNG)
• Spondylocostal dysostosis 4, AR (HES7)
• Spondylocostal dysostosis 5 (TBX6)
• Spondyloepimetaphyseal dysplasia, Missouri type (MMP13)
• Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
• Spondylometaepiphyseal dysplasia, short limb-hand type (DDR2)
• Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
• Spondyloperipheral dysplasia (COL2A1)
• Stickler syndrome, type I (COL2A1)
• Stickler syndrome, type II (COL11A1)
• Stickler syndrome, type IV (COL9A1)
• Stickler syndrome, type V (COL9A2)
• Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome (LIFR)
• Sweeney-Cox syndrome (TWIST1)
• Syndactyly, type V (HOXD13)
• Synpolydactyly 1 (HOXD13)
• Terminal osseous dysplasia (FLNA)
• Tetra-amelia syndrome 1 (WNT3)
• Thanatophoric dysplasia, type I, II (FGFR3)
• Thrombocytopenia-absent radius syndrome (RBM8A)
• Treacher Collins syndrome 1 (TCOF1)
• Treacher Collins syndrome 2 (POLR1D)
• Treacher Collins syndrome 3 (POLR1C)
• Trigonocephaly 1 (FGFR1)
• Van den Ende-Gupta syndrome (SCARF2)
• Weill-Marchesani syndrome 2, AD (FBN1)
• Weyers acrofacial dysostosis (EVC)