Klinische FragestellungLippen-Kiefer-Gaumen-[Gesichts-]Spalten, Differentialdiagnose

NGS +

[Sanger]

Gruppe von Erkrankungen

• (Syndromic) clefting
• Familial non-syndromic cleft lip and/or familial cleft palate
• Familial non-syndromic clefting
• Syndromic cleft lip and/or cleft palate
• Allelic: Triatrial heart [MONDO:0015450] (HYAL2)
• 3MC syndrome 1 (MASP1)
• 3MC syndrome 3 (COLEC10)
• ADULT syndrome (TP63)
• Aarskog-Scott syndrome (FGD1)
• Abruzzo-Erickson syndrome (TBX22)
• Acampomelic campomelic dysplasia (SOX9)
• Achondrogenesis Ib (SLC26A2)
• Achondrogenesis, type II or hypochondrogenesis (COL2A1)
• Acrocallosal syndrome (KIF7)
• Acrofacial dysostosis 1, Nager type (SF3B4)
• Acromelic frontonasal dysostosis (ZSWIM6)
• Adams-Oliver syndrome 1 (ARHGAP31)
• Adams-Oliver syndrome 2 (DOCK6)
• Adams-Oliver syndrome 4 (EOGT)
• Adams-Oliver syndrome 5 (NOTCH1)/Aortic valve disease 1 (NOTCH1)
• Adams-Oliver syndrome 6 (DLL4)
• Al-Gazali-Bakalinova syndrome (KIF7)
• Andersen syndrome (KCNJ2)
• Anterior segment anomalies with/-out cataract (EYA1)
• Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
• Aortic valve disease 1 (NOTCH1)
• Apert syndrome (FGFR2)
• Arboleda-Tham syndrome (KAT6A)
• Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
• Arthrogryposis, distal, type 3 (PIEZO2)
• Arthrogryposis, distal, type 5 (PIEZO2)
• Arthrogryposis, distal, with impaired proprioception + touch (PIEZO2)
• Atelosteogenesis, type I (FLNB)
• Atelosteogenesis, type II (SLC26A2)
• Atelosteogenesis, type III (FLNB)
• Atrial fibrillation, familial, 9 (KCNJ2)
• Avascular necrosis of the femoral head (COL2A1)
• Baraitser-Winter syndrome 1 (ACTB)
• Baraitser-Winter syndrome 2 (ACTG)
• Bardet-Biedl syndrome 13 (MKS1)
• Bardet-Biedl syndrome 20 (IFT172)
• Basal cell nevus syndrome (PTCH1)
• Basel-Vanagait-Smirin-Yosef syndrome (MED25)
• Beare-Stevenson cutis gyrata syndrome (FGFR2)
• Beckwith-Wiedemann syndrome (CDKN1C)
• Bent bone dysplasia syndrome (FGFR2)
• Blepharocheilodontic syndrome 1 (CDH1)
• Blepharocheilodontic syndrome 2 (CTNND1)
• Bohring-Opitz syndrome (ASXL1)
• Boomerang dysplasia (FLNB)
• Brachydactyly, type A2 (BMP2)
• Brachydactyly, type B1(ROR2)
• Branchiooculofacial syndrome (TFAP2A)
• Branchiootic syndrome 1 (EYA1)
• Branchiootic syndrome 3 (SIX1)
• Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
• Branchiootorenal syndrome 2 (SIX5)
• Burn-McKeown syndrome (TXNL4A)
• CHARGE syndrome (CHD7)
• COACH syndrome 2 (CC2D2A)
• Campomelic dysplasia (SOX9)
• Campomelic dysplasia with autosomal sex reversal (SOX9)
• Cardiac valvular dysplasia, XL (FLNA)
• Cardiospondylocarpofacial syndrome (MAP3K7)
• Carey-Fineman-Ziter syndrome (MYMK)
• Catel-Manzke syndrome (TGDS)
• Cerebrocostomandibular syndrome (SNRPB)
• Chondrodysplasia punctata, XLD (EBP)
• Chondrodysplasia with joint dislocations, GPAPP type (IMPAD1)
• Cleft lip with/-out cleft palate [panelapp] (ARHGAP29)
• Cleft lip/palate [MONDO:0016044] (HYAL2)
• Cleft lip/palate-ectodermal dysplasia syndrome (NECTIN1)
• Cleft palate with ankyloglossia (TBX22)
• Cleft palate, cardiac defects + mental retardation (MEIS2)
• Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
• Congenital heart defects, nonsyndromic, 1, XL (ZIC3)
• Congenital short bowel syndrome (FLNA)
• Cornelia de Lange syndrome 1 (NIPBL)
• Cornelia de Lange syndrome 2 (SMC1A)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 5 (HDAC8)
• Cortical dysplasia, complex, with other brain malformations 6 (TUBB)
• Craniofacial dysmorphism, skeletal anomalies + mental retardation syndrome (TMCO1)
• Craniofacial-deafness-hand syndrome PAX3)
• Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
• Craniofrontonasal dysplasia (EFNB1)
• Craniosynostosis, nonspecific (FGFR2)
• Crouzon syndrome (FGFR2)
• Czech dysplasia (COL2A1)
• De la Chapelle dysplasia (SLC26A2)
• Deafness, AD 13 (COL11A2)
• Deafness, AD 20/26 (ACTG)
• Deafness, AD 23 (SIX1)
• Deafness, AD 37 (COL11A1)
• Deafness, AR 53 (COL11A2)
• Desbuquois dysplasia 2 (XYLT1)
• Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
• Diamond-Blackfan anemia 10 (RPS26)
• Diamond-Blackfan anemia 6 (RPL5)
• Diastrophic dysplasia (SLC26A2)
• Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
• Duane-radial ray syndrome (SALL4)
• Dystonia, juvenile-onset (ACTB)
• Ectodermal dysplasia 3, Witkop type (MSX1)
• Ectrodactyly, ectodermal dysplasia + cleft lip
• Ehlers-Danlos syndrome, musculocontractural type 1 (CHST14)
• Endocrine-cerebroosteodysplasia (CILK1)
• Epiphyseal dysplasia, multiple, 4 (SLC26A2)
• Epiphyseal dysplasia, multiple, 6 (COL9A1)
• Epiphyseal dysplasia, multiple, with myopia and deafness (COL2A1)
• Escobar syndrome (CRNG)
• FG syndrome 2 (FLNA)
• Facial clefting, oblique, 1 (SPECC1L)
• Fibrochondrogenesis 1 (COL11A1)
• Fibrochondrogenesis 2 (COL11A2)
• Focal dermal hypoplasia (PORCN)
• Fraser syndrome 1 (FRAS1)
• Frontometaphyseal dysplasia (MAP3K7)
• Frontometaphyseal dysplasia 1 (FLNA)
• Gastric cancer, hereditary diffuse, with/-out cleft lip and/or palate (CDH1)
• Glass syndrome (SATB2)
• Goldberg-Shprintzen megacolon syndrome (KIFBP)
• Greig cephalopolysyndactyly syndrome (GLI3)
• Hartsfield syndrome (FGFR1)
• Hay-Wells syndrome (TP63)
• Heterotaxy, visceral, 1, XL (ZIC3)
• Heterotopia, periventricular, 1 (FLNA)
• Holoprosencephaly 2 SIX3)
• Holoprosencephaly 3 (SHH)
• Holoprosencephaly 5 (ZIC2)
• Holoprosencephaly 7 (PTCH1)
• Hydrolethalus syndrome (HYLS1)
• Hydrolethalus syndrome 2 (KIF7)
• Hyperphosphatasia with mental retardation syndrome 1 (PIGV)
• Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
• Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• IFAP syndrome with/-out BRESHECK syndrome (MBTPS2)
• IMAGE syndrome (CDKN1C)
• IVIC syndrome (SALL4)
• Intellectual developmental disorder, XL 99 (USP9X)
• Intellectual developmental disorder, XL 99, syndromic, female-restricted (USP9X)
• Intellectual developmental disorder, XL syndromic, Snyder-Robinson type (SMS)
• Intellectual developmental disorder, XL, syndromic, Siderius type (PHF8)
• Intestinal pseudoobstruction, neuronal (FLNA)
• Jackson-Weiss syndrome (FGFR1)
• Jackson-Weiss syndrome (FGFR2)
• Joubert syndrome 10 (OFD1)
• Joubert syndrome 12 (KIF7)
• Joubert syndrome 17 (C5orf42)
• Joubert syndrome 18 (TCTN3)
• Joubert syndrome 23 (KIAA0586)
• Joubert syndrome 28 (MKS1)
• Joubert syndrome 9 (CC2D2A)
• Juberg-Hayward syndrome (ESCO2)
• Juvenile polyposis
• KBG syndrome (ANKRD11)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• Keratosis follicularis spinulosa decalvans, XL (MBTPS2)
• Kniest dysplasia (COL2A1)
• LADD syndrome (FGFR2)
• Larsen syndrome (FLNB)
• Legg-Calve-Perthes disease (COL2A1)
• Leukodystrophy, hypomyelinating, 11 (POLR1C
• Limb-mammary syndrome (TP63)
• Loeys-Dietz syndrome 1 (TGFBR1)
• Loeys-Dietz syndrome 2 (TGFBR2)
• Loeys-Dietz syndrome 3 (SMAD3)
• Loeys-Dietz syndrome 5 (TGFB3)
• Lymphedema-distichiasis syndrome (FOXC2)
• Lymphedema-distichiasis syndrome with renal disease + diabetes mellitus (FOXC2)
• MEHMO syndrome (EIF2S3)
• MEND syndrome (EBP)
• Mandibulofacial dysostosis with alopecia (EDNRA)
• Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
• Marden-Walker syndrome (PIEZO2)
• Marshall syndrome (COL11A1)
• Meckel syndrome 1 (MKS1)
• Meckel syndrome 6 (CC2D2A)
• Melnick-Needles syndrome (FLNA)
• Mental retardation, AD 21 (CTCF(`)
• Mental retardation, AR 13 (TRAPPC9)
• Mental retardation, XL syndromic 16 (FGD1)
• Microcephaly-capillary malformation syndrome (STAMBP)
• Microphthalmia with coloboma 5 (SHH)
• Microphthalmia, syndromic 2 (BCOR)
• Miller syndrome (DHODH)
• Mowat-Wilson syndrome (ZEB2)
• Mulibrey nanism (TRIM37)
• Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
• Multiple pterygium syndrome, lethal type (CRNG)
• Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
• Myhre syndrome (SMAD4) 3
• Neurodevelopmental disorder with movement abnormalities, abnormal gait, autistic features (ZSWIM6)
• Olmsted syndrome, XL (MBTPS2)
• Opitz GBBB syndrome, type I (MID1)
• Opitz GBBB syndrome, type II (SPECC1L)
• Orofacial cleft 5 (MSX1)
• Orofacial cleft 6 (IRF6)
• Orofacial cleft 7 (NECTIN1)
• Orofacial cleft 8 (TP63)
• Orofaciodigital syndrome I (OFD1)
• Orofaciodigital syndrome IV (TCTN3)
• Orofaciodigital syndrome VI (C5orf42)
• Orofaciodigital syndrome XIV (C2CD3)
• Osteoarthritis with mild chondrodysplasia (COL2A1)
• Osteogenesis imperfecta, type XIX (MBTPS2)
• Osteoglophonic dysplasia (FGFR1)
• Osteopathia striata with cranial sclerosis (AMER1)
• Otofaciocervical syndrome (EYA1)
• Otopalatodigital syndrome, type I (FLNA)
• Otopalatodigital syndrome, type II (FLNA)
• Otospondylomegaepiphyseal dysplasia, AD + AR (COL11A2)
• Pallister-Hall syndrome (GLI3)
• Periventricular nodular heterotopia 7 (NEDD4L)
• Peters-plus syndrome (B3GLCT)
• Pfeiffer syndrome (FGFR1)
• Pfeiffer syndrome (FGFR2)
• Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
• Polydactyly, postaxial, types A1 + B (GLI3)
• Polydactyly, preaxial, type IV (GLI3)
• Polyposis, juvenile intestinal (SMAD4)
• Popliteal pterygium syndrome 1 (IRF6)
• Raine syndrome (FAM20C)
• Rapp-Hodgkin syndrome (TP63)
• Retinitis pigmentosa 23 (OFD1)
• Retinitis pigmentosa 71 (IFT172)
• Retinitis pigmentosa 80 (IFT140)
• Rhabdomyosarcoma 2, alveolar (PAX3)
• Roberts-SC phocomelia syndrome (ESCO2)
• Robin sequence with cleft mandible + limb anomalies (EIF4A3)
• Robinow syndrome, AD 1 (WNT5A)
• Robinow syndrome, AD 2 (DVL1)
• Robinow syndrome, AD 3 (DVL3)
• Robinow syndrome, AR (ROR2)
• SED congenita (COL2A1)
• SMED Strudwick type (COL2A1)
• Saethre-Chotzen syndrome (FGFR2)
• Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
• Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
• Schizencephaly (SHH)
• Schizencephaly (SIX3)
• Short QT syndrome 3 (KCNJ2)
• Short stature, facial dysmorphism + skeletal anomalies with/-out cardiac anomalies 1 (BMP2)
• Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
• Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
• Short-rib thoracic dysplasia 15 with polydactyly (DYNC2LI1)
• Short-rib thoracic dysplasia 2 with/-out polydactyly (IFT80)
• Short-rib thoracic dysplasia 3 with/-out polydactyly (DYNC2H1)
• Short-rib thoracic dysplasia 6 with or without polydactyly (NEK1)
• Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
• Shprintzen-Goldberg syndrome (SKI)
• Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
• Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
• Single median maxillary central incisor (SHH)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Spondylocarpotarsal synostosis syndrome (FLNB)
• Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
• Spondyloperipheral dysplasia (COL2A1)
• Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
• Stickler syndrome, type I (COL2A1)
• Stickler syndrome, type II (COL11A1)
• Stickler syndrome, type IV (COL9A1)
• Symmetric circumferential skin creases, congenital, 1 (TUBB)
• Symmetric circumferential skin creases, congenital, 2 (MAPRE2)
• TARP syndrome (RBM10)
• Teebi hypertelorism syndrome (SPECC1L)
• Terminal osseous dysplasia (FLNA)
• Tooth agenesis, selective, 1, with/-out orofacial cleft (MSX1)
• Treacher Collins syndrome 1 (TCOF1)
• Treacher Collins syndrome 2 (POLR1D)
• Treacher Collins syndrome 3 (POLR1C)
• Treacher-Collins syndrome 4 (POLR1B)
• Trigonocephaly 1 (FGFR1)
• VACTERL association, XL (ZIC3)
• VICI syndrome (EPG5)
• Van den Ende-Gupta syndrome (SCARF2)
• Van der Woude syndrome (IRF6)
• Van der Woude syndrome 2 (GRHL3)
• Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
• Waardenburg syndrome, type 1 (PAX3)
• Waardenburg syndrome, type 3 (PAX3)
• You-Hoover-Fong syndrome (TELO2)
• ZTTK syndrome (SON)
• foot malformation 4 (TP63)
• hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• palate syndrome 3 (TP63)