Klinische FragestellungSpondyloepiphyseale Dysplasie, Differentialdiagnose

NGS +

Große Erkrankungsgruppe - keine ORPHA#

• Spondyloepiphyseal dysplasia, sensorineural hearing loss, ID + Leber congenital amaurosis (NMNAT1)
• ?Spondyloepimetaphyseal dysplasia, Di Rocco type (UFSP2)
• Allelic: Autism, susceptibility to, XL 5 (RPL10)
• Allelic: Carpal tunnel syndrome (COMP)
• Allelic: Deafness, AD 13 (COL11A2)
• Allelic: Deafness, AD 37 (COL11A1)
• Allelic: Deafness, AR 53 (COL11A2)
• Allelic: Hereditary motor and sensory neuropathy, type IIc (TRPV4)
• Allelic: Leber congenital amaurosis 9 (NMNAT1)
• Allelic: Legg-Calve-Perthes disease (COL2A1)
• Allelic: Lumbar disc herniation, susceptibility to (COL11A1)
• Allelic: Neuronopathy, distal hereditary motor, type VIII (TRPV4)
• Allelic: Osteoarthritis with mild chondrodysplasia (COL2A1)
• Allelic: Parastremmatic dwarfism (TRPV4)
• Allelic: Schwartz-Jampel syndrome, type 1 (HSPG2)
• Allelic: Short stature, adv. bone age, with/-out early osteoarthritis +/- osteochondr. diss. (ACAN)
• Allelic: Sodium serum level QTL 1 (TRPV4)
• Allelic: Spondyloepimetaphyseal dysplasia, aggrecan type (ACAN)
• Allelic: Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
• Allelic: Stickler syndrome, type I (COL2A1)
• Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
• Arthropathy, progressive pseudorheumatoid, of childhood (CCN6)
• Avascular necrosis of femoral head, primary, 2 (TRPV4)
• Brachyolmia type 3 (TRPV4)
• Czech dysplasia (COL2A1)
• Digital arthropathy-brachydactyly, familial (TRPV4)
• Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2)
• Epiphyseal dysplasia, multiple, 1 (COMP)
• Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
• Fibrochondrogenesis 1 (COL11A1)
• Fibrochondrogenesis 2 (COL11A2)
• GM1-gangliosidosis, types I, II, III (GLB1)
• Hip dysplasia, Beukes type (UFSP2)
• Intellectual developmental disorder, XL, syndromic, 35 (RPL10)
• Kniest dysplasia (COL2A1)
• Lowry-Wood syndrome (RNA4ATAC)
• Marshall syndrome (COL11A1)
• Metatropic dysplasia (TRPV4)
• Microcephalic osteodysplastic primordial dwarfism, type I (RNA4ATAC)
• Mucopolysaccharidosis IVA (GALNS)
• Mucopolysaccharidosis type IVB, Morquio (GLB1)
• Otospondylomegaepiphyseal dysplasia, AD (COL11A2)
• Otospondylomegaepiphyseal dysplasia, AR (COL11A2)
• Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
• Pseudoachondroplasia (COMP)
• Roifman syndrome (RNA4ATAC)
• Scapuloperoneal spinal muscular atrophy (TRPV4)
• Schimke immunoosseous dysplasia (SMARCAL1)
• Spondyloepimetaphyseal dysplasia Strudwick type (COL2A1)
• Spondyloepiphyseal dysplasia congenita (COL2A1)
• Spondyloepiphyseal dysplasia tarda (TRAPPC2)
• Spondyloepiphyseal dysplasia tarda with progressive arthropathy (CCN6)
• Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3)
• Spondyloepiphyseal dysplasia, Kimberley type (ACAN)
• Spondyloepiphyseal dysplasia, Kondo-Fu type (MBTPS1)
• Spondyloepiphyseal dysplasia, Maroteaux (TRPV4)
• Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
• Spondyloepiphyseal dysplasia, sensorineural hearing loss, ID + Leber congenital amaurosis (NMNAT1)
• Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
• Spondyloperipheral dysplasia (COL2A1)
• Stickler syndrome, type II (COL11A1)