Klinische FragestellungPränatal auffällige Gliedmaßen

NGS +

Gruppe heterogener Erkrankungen: Angeborene Anomalien der Gliedmaßen können durch genetische Syndrome verursacht werden oder isolierte sporadische Ereignisse sein; Früherkennung solcher Anomalien ist wichtig, um Familien im optimalen Zeitfenster beraten zu können

• Alias: Prenatally unusual limbs
• Allelic: Epileptic encephalopathy, early infantile, 85, with/-out midline brain defects (SMC1A)
• Allelic: Hay-Wells syndrome (TP63)
• Allelic: Hypophosphatasia, adult (ALPL)
• Allelic: Hypophosphatasia, childhood (ALPL)
• Allelic: Mungan syndrome (RAD21)
• Allelic: Odontochondrodysplasia 1 (TRIP11)
• Allelic: Orofacial cleft 8 (TP63)
• Allelic: Rapp-Hodgkin syndrome (TP63)
• Allelic: Warburg-Cinotti syndrome (DDR2)
• ADULT syndrome (TP63)
• Aarskog-Scott syndrome (FGD1)
• Acampomelic campomelic dysplasia (SOX9)
• Acheiropody (LMBR1)
• Achondrogenesis Ib (SLC26A2)
• Achondrogenesis, type IA (TRIP11)
• Achondrogenesis, type II or hypochondrogenesis (COL2A1)
• Acrocapitofemoral dysplasia (IHH)
• Acrodysostosis 2, with/-out hormone resistance (PDE4D)
• Acrofacial dysostosis 1, Nager type (SF3B4)
• Acromelic frontonasal dysostosis (ZSWIM6)
• Acromesomelic dysplasia, Demirhan type (BMPR1B)
• Adams-Oliver syndrome 1 (ARHGAP31)
• Adams-Oliver syndrome 2 (DOCK6)
• Adams-Oliver syndrome 3 (RBPJ)
• Adams-Oliver syndrome 4 (EOGT)
• Adams-Oliver syndrome 5 (NOTCH1)
• Adams-Oliver syndrome 6 (DLL4)
• Amelia, posterior, with pelvic + pulmonary hypoplasia syndrome (TBX4)
• Apert syndrome (FGFR2)
• Atelosteogenesis, type II (SLC26A2)
• Baller-Gerold syndrome (RECQL4)
• Bardet-Biedl syndrome 1, 2, 3, 4, 5, 7, 9, 10, 12 (BBS1-2, ARL6, BBS4-5, BBS7, BBS9, BBS10, BBS12)
• Bardet-Biedl syndrome 6, 8, 13, 15, 17 (MKKS, TTC8, MKS1, WDPCP, LZTFL1)
• Bent bone dysplasia syndrome (FGFR2)
• Bohring-Opitz syndrome (ASXL1)
• Brachydactyly, type A1 (IHH)
• Brachydactyly, type A1, A2, C (GDF5)
• Brachydactyly, type A1, D + type A2 (BMPR1B)
• Brachydactyly, type A2 (BMP2)
• Brachydactyly, type B1 (ROR2)
• Brachydactyly, type B2 (NOG)
• Brachydactyly, type D, type E (HOXD13)
• Brachydactyly, type E2 (PTHLH)
• Brachydactyly-syndactyly syndrome (HOXD13)
• CHILD syndrome (NSDHL)
• CHOPS syndrome (AFF4)
• Campomelic dysplasia (SOX9)
• Campomelic dysplasia with autosomal sex reversal (SOX9)
• Camptosynpolydactyly, complex (BHLHA9)
• Carpenter syndrome (RAB23)
• Carpenter syndrome 2 (MEGF8)
• Catel-Manzke syndrome (TGDS)
• Cenani-Lenz syndactyly syndrome (LRP4)
• Char syndrome (TFAP2B)
• Chondrodysplasia punctata, XLD (EBP)
• Chondrodysplasia punctata, XLR (ARSE)
• Chondrodysplasia, Grebe type (GDF5)
• Clubfoot, congenital, with/-out deficiency of long bones and/or mirror-image polydactyly (PITX1)
• Congenital heart defects, hamartomas of tongue + polysyndactyly (WDPCP)
• Cornelia de Lange syndrome 1 (NIPBL)
• Cornelia de Lange syndrome 2 (SMC1A)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 4 (RAD21)
• Cornelia de Lange syndrome 5 (HDAC8)
• Craniofacial-deafness-hand syndrome (PAX3)
• Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
• Craniometaphyseal dysplasia, AR (GJA1)
• Crouzon syndrome (FGFR2)
• Crouzon syndrome with acanthosis nigricans (FGFR3)
• Culler-Jones syndrome (GLI2)
• Curry-Jones syndrome, somatic mosaic (SMO)
• De la Chapelle dysplasia (SLC26A2)
• Diamond-Blackfan anemia 1, 3, 4, 5, 6, 7, 8 (RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, RPS7)
• Diamond-Blackfan anemia 9, 10 (RPS10, RPS26)
• Diastrophic dysplasia (SLC26A2)
• Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
• Du Pan syndrome (GDF5)
• Duane-radial ray syndrome (SALL4)
• Ectrodactyly, ectodermal dysplasia + cleft lip/palate syndrome 3 (TP63)
• Ellis-van Creveld syndrome (EVC, EVC2)
• Epiphyseal dysplasia, multiple, 4 (SLC26A2)
• Fanconi anemia, complementation group A-C, D2, E-G, I, L (FANCA-C, -D2, -E-G, -I, -L)
• Fanconi anemia, complementation group D1, N, J, P, Q, T (BRCA2, PALB2, BRIP2, SLX4, ERCC4, UBE2T)
• Feingold syndrome 1 (MYCN)
• Filippi syndrome (CKAP2L)
• Focal dermal hypoplasia (PORCN)
• Fraser syndrome 1 (FRAS1)
• Fraser syndrome 2, 3 (FREM2, GRIP1)
• Frontometaphyseal dysplasia 1 (FLNA)
• Fuhrmann syndrome (WNT7A)
• Greenberg skeletal dysplasia (LBR)
• Greig cephalopolysyndactyly syndrome (GLI3)
• Guttmacher syndrome (HOXA13)
• Hand-foot-uterus syndrome (HOXA13)
• Hartsfield syndrome (FGFR1)
• Holt-Oram syndrome (TBX4)
• Hypertension and brachydactyly syndrome (PDE3A)
• Hypochondroplasia (FGFR3)
• Hypophosphatasia, infantile (ALPL)
• Hypoplastic or aplastic tibia with polydactyly (LMBR1)
• IVIC syndrome (SALL4)
• Ischiocoxopodopatellar syndrome with/-out pulmonary arterial hypertension (TBX4)
• Jackson-Weiss syndrome (FGFR1, FGFR2)
• Juberg-Hayward syndrome (ESCO2)
• LADD syndrome (FGF10, FGFR2, FGFR3)
• LADD syndrome (FGFR3)
• Langer mesomelic dysplasia (SHOX)
• Laurin-Sandrow syndrome (LMBR1)
• Leri-Weill dyschondrosteosis (SHOX)
• Liebenberg syndrome (PITX1)
• Limb-mammary syndrome (TP63)
• Lowry-Wood syndrome (RNU4ATAC)
• MEND syndrome (EBP)
• Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
• McKusick-Kaufman syndrome (MKKS)
• Meckel syndrome 1, 2, 3, 4, 5, 6, 7 (MKS1, TMEM216, TMEM67, CEP290, RPGRIP1L, CC2D2A, NPHP3)
• Meckel syndrome 8, 9, 10, 11, 12, 13 (TCTN2, B9D1, B9D2, TMEM231, KIF14, TMEM107)
• Meckel syndrome [panelapp] (TXNDC15)
• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (PIK3R2)
• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
• Melnick-Needles syndrome (FLNA)
• Mental retardation, XL 99, syndromic, female-restricted (USP9X)
• Mental retardation, XL syndromic 16 (FGD1)
• Metacarpal 4-5 fusion (FGF16)
• Metatropic dysplasia (TRPV4)
• Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
• Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
• Microphthalmia with limb anomalies (SMOC1)
• Microphthalmia, syndromic 6 (BMP4)
• Muenke syndrome (FGFR3)
• Multiple synostoses syndrome 1 (NOG)
• Nail-patella syndrome (LMX1B)
• Oculodentodigital dysplasia, AD + AR (GJA1)
• Odontohypophosphatasia (ALPL)
• Omodysplasia 2 (FZD2)
• Orofacial cleft 11 (BMP4)
• Orofaciodigital syndrome V (DDX59)
• Osteoglophonic dysplasia (FGFR1)
• Otopalatodigital syndrome, type I + II (FLNA)
• Pallister-Hall syndrome (GLI3)
• Pallister-Hall-like syndrome (SMO)
• Pfeiffer syndrome (FGFR1, FGFR2)
• Polydactyly, postaxial, types A1 + B; preaxial, type IV (GLI3)
• Polydactyly, preaxial I + postaxial, type A8 (GLI1)
• Polydactyly, preaxial type II (LMBR1)
• Pyle disease (SFRP4)
• RAPADILINO syndrome RECQL4)
• RHYNS syndrome (TMEM67)
• Radioulnar synostosis, nonsyndromic (SMAD6)
• Roberts-SC phocomelia syndrome (ESCO2)
• Robinow syndrome, AD 1 (WNT5A)
• Robinow syndrome, AD 2 (DVL1)
• Robinow syndrome, AD 3 (DVL3)
• Robinow syndrome, AR (ROR2)
• Robinow-Sorauf syndrome (TWIST1)
• Roifman syndrome (RNU4ATAC)
• Rothmund-Thomson syndrome, type 2 (RECQL4)
• SADDAN (FGFR3)
• SED, Maroteaux type (TRPV4)
• STAR syndrome (CCNQ)
• Saethre-Chotzen syndrome (FGFR2)
• Saethre-Chotzen syndrome with/-out eyelid anomalies (TWIST1)
• Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
• Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
• Short stature, brachydactyly, intellectual developmental disability + seizures (PRMT7)
• Short stature, facial dysmorphism + skeletal anomalies with/-out cardiac anomalies 1 (BMP2)
• Short stature, idiopathic familial (SHOX)
• Short-rib thoracic dysplasia 8 with/-out polydactyly (DYNC2I1 syn. WDR60)
• Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
• Split-hand/foot malformation 1 (DLX5)
• Split-hand/foot malformation 4 (TP63)
• Split-hand/foot malformation 6 (WNT10B)
• Spondylocostal dysostosis 1, AR (DLL3)
• Spondyloepiphyseal dysplasia, congenita (COL2A1)
• Spondylometaepiphyseal dysplasia, short limb-hand type (DDR2)
• Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
• Spondyloperipheral dysplasia (COL2A1)
• Stickler syndrome, type I (COL2A1)
• Stromme syndrome (CENPF)
• Sweeney-Cox syndrome (TWIST1)
• Symphalangism, proximal, 1A (NOG)
• Symphalangism, proximal, 1B (GDF5)
• Syndactyly, mesoaxial synostotic, phalangeal reduction (BHLHA9)
• Syndactyly, type III (GJA1)
• Syndactyly, type IV (LMBR1)
• Syndactyly, type V (HOXD13)
• Synpolydactyly 1 (HOXD13)
• Tarsal-carpal coalition syndrome (NOG)
• Temple-Baraitser syndrome (KCNH1)
• Temtamy preaxial brachydactyly syndrome (CHSY1)
• Thanatophoric dysplasia, type I + II (FGFR3)
• Thrombocytopenia-absent radius syndrome (RBM8A)
• Townes-Brocks branchiootorenal-like syndrome (SALL1)
• Townes-Brocks syndrome 1 (SALL1)
• Trichorhinophalangeal syndrome, type I, III (TRPS1)
• Triphalangeal thumb, type I (LMBR1)
• Triphalangeal thumb-polysyndactyly syndrome (LMBR1)
• Ulna + fibula, absence of, with severe limb deficiency (WNT7A)
• Ulnar-mammary syndrome (TBX3)
• VACTERL association, XL (ZIC3)
• Vertebral, cardiac, renal, and limb defects syndrome 2 (KYNU)
• Waardenburg syndrome, type 1 + 3 (PAX3)
• Weyers acrofacial dysostosis (EVC2, [EVC])
• Yunis-Varon syndrome (FIG4)
• [McCune-]Albright syndrome (GNAS)