IllnessPrenatally abnormal skeleton, differential diagnosis

NGS +

[Sanger]

A wide range of rare skeletal dyplasias, each with a specific recurrence risk, dysmorphic expression, implications for neonatal survival and quality of life. Incidental discovery of skeletal abnormalities on routine ultrasound screening necessitates a systematic examination of the limbs, head, thorax, spine to arrive at the correct diagnosis.

• 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)