ErkrankungArthrogrypose, syndromal; Differentialdiagnose

NGS +

Gruppe von Erkrankungen: >30 verschiedene Syndrome mit Arthrogrypose (ORPHANET)

• Allelic: Barrett esophagus/esophageal adenocarcinoma (ASCC1)
• Allelic: CHAND syndrome (RIPK4)
• Allelic: Cardiomyopathy, dilated, 1G (TTN)
• Allelic: Cardiomyopathy, dilated, 1S (MYH7)
• Allelic: Cardiomyopathy, dilated, 1X (FKTN)
• Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
• Allelic: Dystonia 27 (COL6A3)
• Allelic: Dystonia-1, modifier of (TOR1A)
• Allelic: Dystonia-1, torsion (TOR1A)
• Allelic: Immunodeficiency 9 (ORAI1)
• Allelic: Larsen syndrome (FLNB)
• Allelic: Left ventricular noncompaction 5 (MYH7)
• Allelic: Macular degeneration, early-onset (FBN2)
• Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
• Allelic: Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
• Allelic: Mental retardation, AD 13 (DYNC1H1)
• Allelic: Myasthenic syndrome, cong., 3C, ass. with acetylcholine receptor deficiency (CHRND)
• Allelic: Myasthenic syndrome, congenital, 1A, slow-channel (CHRNA1)
• Allelic: Myasthenic syndrome, congenital, 1B, fast-channel (CHRNA1)
• Allelic: Myasthenic syndrome, congenital, 3A, slow-channel (CHRND)
• Allelic: Myasthenic syndrome, congenital, 3B, fast-channel (CHRND)
• Allelic: Orofacial cleft 6 (IRF6)
• Allelic: Osteogenesis imperfecta, type XI (FKBP10)
• Allelic: Polyglucosan body disease, adult form (GBE1)
• Allelic: Retinitis pigmentosa 76 (POMGNT1)
• Allelic: Sodium serum level QTL 1 (TRPV4)
• Allelic: Spondylocarpotarsal synostosis syndrome (FLNB)
• Allelic: van der Woude syndrome (IRF6)
• Alkuraya-Kucinskas syndrome [arthrogryposis, brain abnormalities] (KIAA1109)
• Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (POR)
• Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
• Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (LGI4)
• Arthrogryposis multiplex congenita 5 (TOR1A)
• Arthrogryposis multiplex congenita 6 (NEB)
• Arthrogryposis, distal, type 2A, Freeman-Sheldon (MYH3)
• Arthrogryposis, distal, type 2B1 (TNNI2)
• Arthrogryposis, distal, type 2B2 (TNNT3)
• Arthrogryposis, distal, type 2B3, Sheldon-Hall (MYH3)
• Arthrogryposis, distal, type 5D (ECEL1)
• Arthrogryposis, renal dysfunction + cholestasis 1 (VPS33B)
• Arthrogryposis, renal dysfunction + cholestasis 2 (VIPAS39)
• Atelosteogenesis, type I (FLNB)
• Atelosteogenesis, type III (FLNB)
• Atelosteogenesis, types I, III; Boomerang dysplasia (FLNB)
• Avascular necrosis of femoral head, primary, 2 (TRPV4)
• Bethlem myopathy 1 (COL6A1-3)
• Bethlem myopathy 2 (COL12A1)
• Bohring-Opitz syndrome (ASXL1)
• Boomerang dysplasia (FLNB)
• Brachyolmia type 3 (TRPV4)
• Bruck syndrome 1 (FKBP10)
• Bruck syndrome 2 (PLOD2)
• CAP myopathy 1 (TPM3)
• CATSHL syndrome [CAmptodactyly, Tall Stature, Hearing Loss] (FGFR3)
• Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (PRG4)
• Carey-Fineman-Ziter syndrome [hypotonia, Moebius + Pierre Robin complex, delayed motor] (MYMK)
• Carney complex variant (MYH8)
• Central core disease (RYR1)
• Centronuclear myopathy 1 (DNM2)
• Charcot-Marie-Tooth disease, DI B (DNM2)
• Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
• Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
• Cockayne syndrome, type A (ERCC8)
• Cockayne syndrome, type B (ERCC6)
• Cold-induced sweating syndrome 1 (CRLF1)
• Congenital arthrogryposis with anterior horn cell disease (GLE1)
• Congenital contractures of the limbs + face, hypotonia + developmental delay (NALCN)
• Congenital disorder of glycosylation, type Id (ALG3)
• Contractural arachnodactyly, congenital (FBN2)
• Contractures, pterygia, + spondylocarpostarsal fusion syndrome 1A (MYH3)
• Contractures, pterygia, + spondylocarpotarsal fusion syndrome 1B (MYh3)
• Desmosterolosis (DHCR24)
• Developmental + epileptic encephalopathy 69 (CACNA1E)
• Digital arthropathy-brachydactyly, familial (TRPV4)
• Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
• Ehlers-Danlos syndrome, musculocontractural type 1 (CHST14)
• Escobar syndrome (CHRNG)
• Escobar syndrome [Lit.] (TPM2)
• Fetal akinesia deformation sequence 3 (DOK7)
• Gaucher disease, perinatal lethal (GBA)
• Gaucher disease, type I, II, III, IIIC (GBA)
• Genitopatellar syndrome (KAT6B)
• Glycogen storage disease IV (GBE1)
• Glycogen storage disease VII (PFKM)
• Hereditary motor + sensory neuropathy, type IIc (TRPV4)
• Hyaline fibromatosis syndrome (ANTXR2)
• Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
• Hypotonia, infantile, with psychomotor retardation + characteristic facies 1 (NALCN)
• King-Denborough syndrome (RYR1)
• Laing distal myopathy (MYH7)
• Lethal congenital contracture syndrome 1 (GLE1)
• Lethal congenital contracture syndrome 11 (GLDN)
• Lethal congenital contracture syndrome 5 (DNM2)
• Lethal congenital contracture syndrome 7 (CNTNAP1)
• Lethal congenital contracture syndrome 9 (ADGRG6)
• Loeys-Dietz syndrome 1 (TGFBR1)
• Loeys-Dietz syndrome 2 (TGFBR2)
• Loeys-Dietz syndrome 3 (SMAD3)
• Loeys-Dietz syndrome 4 (TGFB2)
• Loeys-Dietz syndrome 5 (TGFB3)
• Marden-Walker syndrome (PIEZO2)
• Metatropic dysplasia (TRPV4)
• Minicore myopathy with external ophthalmoplegia (RYR1)
• Multiple pterygium syndrome, lethal type (CHRNA1, CHRND, CHRNG)
• Muscular dystrophy, cong., merosin deficient or partially deficient (LAMA2)
• Muscular dystrophy, limb-girdle, AR 10 (TTN)
• Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
• Muscular dystrophy, rigid spine, 1 (SELENON)
• Muscular dystrophy-dystroglycanopathy limb-girdle), type C, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 12 (POMK)
• Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 14 (GMPPB)
• Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 2 (POMT2)
• Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 4 (FKTN)
• Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 7 (CRPPA)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies), type A, 14 (GMPPB)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies), type A, 2 (POMT2)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies), type A, 6 (LARGE1)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 10 (RXYLT1)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 11 (B3GALNT2)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 12 (POMK)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 13 (B4GAT1)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 4 (FKTN)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 7 (CRPPA)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 8 (POMGNT2)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 9 (DAG1)
• Muscular dystrophy-dystroglycanopathy, cong. with mental retardation), type B, 14 (GMPPB)
• Muscular dystrophy-dystroglycanopathy, cong. with mental retardation), type B, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy, cong. with mental retardation), type B, 6 (LARGE1)
• Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 2 (POMT2)
• Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy, cong. without mental retardation, type B, 4 (FKTN)
• Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 9 (DAG1)
• Myasthenic syndrome, congenital, 10 (DOK7)
• Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (RAPSN)
• Myasthenic syndrome, congenital, 13, with tubular aggregates (DPAGT1)
• Myasthenic syndrome, congenital, 16 (SCN4A)
• Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
• Myasthenic syndrome, congenital, 25 (VAMP1)
• Myasthenic syndrome, congenital, 2A, slow-channel (CHRNB1)
• Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CHRNB1)
• Myasthenic syndrome, congenital, 4A, slow-channel (CHRNE)
• Myasthenic syndrome, congenital, 4B, fast-channel (CHRNE)
• Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CHRNE)
• Myasthenic syndrome, congenital, 5 (COLQ)
• Myasthenic syndrome, congenital, 6, presynaptic (CHAT)
• Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (MUSK)
• Myhre syndrome (SMAD4)
• Myopathy, actin, congenital, with cores (ACTA1)
• Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
• Myopathy, congenital, Baily-Bloch (STAC3)
• Myopathy, congenital, with fast-twitch, type II, fiber atrophy (MYL1)
• Myopathy, congenital, with fiber-type disproportion (SELENON)
• Myopathy, congenital, with fiber-type disproportion (TPM3)
• Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
• Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Myopathy, myosin storage, AD (MYH7)
• Myopathy, myosin storage, AR (MYH7)
• Myopathy, scapulohumeroperoneal (ACTA1)
• Myopathy, tubular aggregate, 2 (ORAI1)
• Myosclerosis, congenital (COL6A2)
• Myotubular myopathy, XL (MTM1)
• Nemaline myopathy 1, AD/AR (TPM3)
• Nemaline myopathy 10 (LMOD3)
• Nemaline myopathy 2, AR (NEB)
• Nemaline myopathy 3, AR/AD (ACTA1)
• Nemaline myopathy 5, Amish type (TNNT1)
• Nemaline myopathy 8, AR (KLHL40)
• Nemaline myopathy 9 (KLHL41)
• Neurodevelopmental disorder with microcephaly, arthrogryposis + structural brain anomalies (SMPD4)
• Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
• Neuronopathy, distal hereditary motor, type VIII (TRPV4)
• PERCHING syndrome [global developm. delay, dysmorphic face, poor growth, contractures] (KLHL7)
• Parastremmatic dwarfism (TRPV4)
• Peroxisome biogenesis disorders (PEX1-3, PEX5-7, PEX10-14, PEX16, PEX19, PEX26)
• Pontocerebellar hypoplasia type 2A (TSEN54)
• Pontocerebellar hypoplasia type 4 (TSEN54)
• Pontocerebellar hypoplasia type 5 (TSEN54)
• Pontocerebellar hypoplasia, type 1B (EXOSC3)
• Popliteal pterygium syndrome 1 (IRF6)
• Popliteal pterygium syndrome, Bartsocas-Papas type (RIPK4)
• Proximal myopathy + ophthalmoplegia (MYBPC1)
• Proximal myopathy + ophthalmoplegia (MYH2)
• Raine syndrome [neonatal osteosclerotic bone dysplasia] (FAM20C)
• Restrictive dermopathy, lethal (ZMPSTE24)
• SED, Maroteaux type (TRPV4)
• Salih myopathy (TTN)
• Scapuloperoneal spinal muscular atrophy (TRPV4)
• Scapuloperoneal syndrome, myopathic type (MYH7)
• Schaaf-Yang syndr. [delayed psychomotor/intell. developm., hypotonia, behav. abnorm.] (MAGEL2)
• Schwartz-Jampel syndrome, type 1 (HSPG2)
• Shprintzen-Goldberg syndrome [craniosynostosis, marfanoid, skeletal, neurologic, cardiovasc.] (SKI)
• Spinal muscular atrophy with congenital bone fractures 2 (ASCC1)
• Spinal muscular atrophy, XL 2, infantile (UBA1)
• Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
• Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
• Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
• Spinal muscular atrophy-0, -1, -2, -3, -4 (SMN1)
• Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
• Stormorken syndrome [bleeding, thrombocytopenia, anemia, asplenia, tub. aggr. myopathy...] (STIM1)
• Tibial muscular dystrophy, tardive (TTN)
• Ullrich congenital muscular dystrophy 1 (COL6A1-3)
• Ullrich congenital muscular dystrophy 2 (COL12A1)
• Van den Ende-Gupta syndrome [contractual arachnodactyly + distinctive face] (SCARF2)
• Weill-Marchesani syndrome 1, recessive (ADAMTS10)
• Wieacker-Wolff syndrome [severe neurodevelopmental disorder affecting CNS + PNS] (ZC4H2)